Genes associated with “developmental regression”

292 genes foundHPO: Developmental regressionOpen Targets: Developmental regression1 PanelApp panel
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for details

Strong Candidates

19 genes
1
ST3GAL5 →

ST3 beta-galactoside alpha-2,3-sialyltransferase 5

34
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
100%
n=8
P/LP Variants
8
OT Score
0.37
2
31
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
-
P/LP Variants
1
OT Score
-
3
GALC →

galactosylceramidase

25
score
ClinGen: DefinitiveP2G #7GTR ↑

Developmental regression

Frequency
40%
n=30
P/LP Variants
-
OT Score
0.33
4
25
score
ClinGen: DefinitiveP2G #10GTR ↑
Frequency
-
P/LP Variants
43
OT Score
-
5
23
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
54%
n=35
P/LP Variants
61
OT Score
-
6
23
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
100%
n=1
P/LP Variants
-
OT Score
-
7
PLA2G6 →

phospholipase A2 group VI

22
score
ClinGen: DefinitiveP2G #3GTR ↑

Developmental regression

Frequency
-
P/LP Variants
-
OT Score
0.33
8
21
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
100%
n=4
P/LP Variants
-
OT Score
-
9
21
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 94

Frequency
-
P/LP Variants
1
OT Score
-
21TCF20
Def
21DNM1
Def

Developmental regression

20SGSH
Def

N-sulfoglucosamine sulfohydrolase

20CACNA1E
Def
20FRRS1L
Def

Developmental regression

20PPP3CA
Def

Developmental regression

20SLC1A2
Def

Developmental regression

20SPTBN1
Def

Developmental regression

20TANC2
Def

Developmental regression

20UBTF
Def

Developmental regression

Consider

70 genes
20ATP7A
Def#1

Developmental regression

20SLC12A5
Lim

Developmental regression

18MECP2
Def

Developmental regression

18HEXB
Def

Developmental regression

17ASPA
Def

Developmental regression

16PAFAH1B1
16IFIH1
DefP:G

interferon induced with helicase C domain 1

15HTT
Def#13

Developmental regression

15GNB1
Def

Developmental regression

15BRPF1
Def
15CDKL5
Def
15EBF3
Def

EBF transcription factor 3

15SLC6A1
14NDUFAF6
Def

Developmental regression

14IDS
Def
13POLR3A
Def

Developmental regression

13AFG3L2
Def
13DEE113

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113; DEE113

13DEE36

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36

13DEE69

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 69; DEE69

13DEE85

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85

13DEE87

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87

13DEE9

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9

13GNS
Def
13HGSNAT
Def
13LEUDEN

LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN

13MECREN

METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION; MECREN

13MRD5

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5; MRD5

13MRXSB

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

13MRXSCH

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

13MRXSPF

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF

13NAGLU
Def
13NEDRSO

NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION; NEDRSO

13SPDRS

SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

13TBCK
Def
13XLID50

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50; XLID50

12CLN8
DefP:R

Developmental regression

12SCO2
Def

Developmental regression

12SURF1
Def

Developmental regression

11VHL
DefSF
11PCYT2

Developmental regression

11SCN8A
Def

Developmental regression

11SCN1A
Def

Developmental regression

11EARS2
Def

Developmental regression

11KCTD7
DefP:R

Developmental regression

10ABAT
Mod
10SPATA22
10GM2A
Def
10KARS1
Lim

Developmental regression

10SERAC1
Def

Developmental regression

10OPA3
ModP:R

outer mitochondrial membrane lipid metabolism regulator OPA3

10SDHB
DefSF

Developmental regression

9ATP2B2
Def
9FANCD2
Def
9COX10
Def

Developmental regression

9COX15
Def

Developmental regression

9COX6B1
Def

Developmental regression

9FASTKD2
Def

Developmental regression

9SCO1
Def

Developmental regression

9TACO1
Def

Developmental regression

9GRIP1
DefP:R
9KMT2E
Def
9CACNA1B
Mod

calcium voltage-gated channel subunit alpha1 B

9NUP214

nucleoporin 214

9PIGA
Def

Developmental regression

9TUBB4A
Def

Developmental regression

9TPP1
DefP:R

Developmental regression

8SMPD1
Def

Developmental regression

8CLN5
DefP:R

Developmental regression

8EHMT1
Def

Developmental regression

Possible

149 genes — click to expand
8NDUFV1
Def

Developmental regression

8PSAP
Def

Developmental regression

8SIN3A
Def

Developmental regression

8SDHA
Def

Developmental regression

8SDHD
DefSF

Developmental regression

8GCDH
Def

Developmental regression

8AIFM1
Def

Developmental regression

8SDHAF1
Def

Developmental regression

7CRELD1
Lim
7HIBCH
Def

Developmental regression

7AARS2
Def

Developmental regression

7SLC30A9
Def

Developmental regression

7CUX2
Mod

Developmental regression

7NDUFS4
Def

Developmental regression

7HMGA2
Def
7HSD17B4
Def

Motor regression

7MSRB3
Def
7PMM2
Def
7POLR2A
Def
7RXYLT1
Def
7SPEN
Def
7TBK1
Def
7USP7
Def
7MT-ND1
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

7SON
Def

Developmental regression

7NMNAT1
Def

nicotinamide nucleotide adenylyltransferase 1

7ADAR
Def

Developmental regression

7AHDC1
Def

Developmental regression

7ARHGEF9
Def

Developmental regression

7NDUFS2
Def

Developmental regression

7OPA1
DefP:R

Motor regression

7ZBTB18
Def

Developmental regression

7LYRM7
Def

Developmental regression

7TBCD
Def

Developmental regression

6COA8
Def

Developmental regression

6BRK1
6EMC3
6FANCD2OS
6GHRLOS
6IL17RC
6IRAK2
6PRRT3
6SEC13
6SLC6A11
6TAF8
6TATDN2
6SGPL1
Def

Developmental regression

6IRF2BPL
Def

Developmental regression

6NAXE
Def

Developmental regression

6GFAP
Def

Developmental regression

6BCKDK
Def

Developmental regression

6NDUFS7
Def

Developmental regression

6NDUFV2
Def

Developmental regression

6LEMD3
6NTNG2

Developmental regression

6MTRFR
Def

Developmental regression

6HSD17B10
Def

Developmental regression

6ISCA2
Def

Developmental regression

6NAXD
Def

Developmental regression

6CIC
Def

Developmental regression

6PIGT
Def

Developmental regression

6POLG
Lim

Developmental regression

6KICS2

Developmental regression

6RHOBTB2
Def

Developmental regression

6ROGDI
Def

Developmental regression

5FDXR
Def

Motor regression

5NDUFA2
Def

Developmental regression

5TBC1D24
Def

Developmental regression

5IL1RAPL1
Def

interleukin 1 receptor accessory protein like 1

5DEE37

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37; DEE37

5PCDH19
Def

Developmental regression

5GABRA1
Def

Developmental regression

5MFF
Mod

Developmental regression

5SNAPC4

Cognitive regression

5LIFR
Def

LIF receptor subunit alpha

5LMNA
DefSF

lamin A/C

5NDUFB3
Def

NADH:ubiquinone oxidoreductase subunit B3

5PIGY
Lim

Developmental regression

5FUCA1
Def

Developmental regression

5GLB1
Def

Motor regression

5IQSEC2
Def

Developmental regression

5NFU1
Def

Motor regression

5NGLY1
Def

Motor regression

5WARS2
Def

Developmental regression

4SATB1
Def

Developmental regression

4TRAPPC6B
Def

Motor regression

4ADPRS

Developmental regression

4LETM1

Developmental regression

4KCNT1
Def

Developmental regression

4KCNH5
Def

Developmental regression

4EIF3F
Def

Developmental regression

4ARPC4
4ARPC4-TTLL3
4C12ORF56
4CAMK1
4CAND1
4CARHSP1
4CDK19
4CIDEC
4CPNE9
4DYRK2
4HAPSTR1
4IL17RE
4IRAK3
4JAGN1
4KAT8
4MTMR14
4OGG1
4RASSF3
4RNASET2
4RPUSD3
4SRGAP1
4TADA3
4TBC1D30
4TMBIM4
4TMEM186
4TTLL3
4WIF1
4YWHAE
4UNC13A

unc-13 homolog A

4COG8
Def

Developmental regression

4PPP2CA
Def

Developmental regression

4PMPCB

Developmental regression

4GFM1
Mod

G elongation factor mitochondrial 1

4ATP1A2
Def

Developmental regression

4GAMT
Def

Developmental regression

4TFE3
Def

Developmental regression

4ATP11A
Mod

Developmental regression

4FAR1
Mod

Developmental regression

4GABBR2
Mod

Developmental regression

4LIPT1
Mod

Developmental regression

4KDM6B
Def

Developmental regression

4LRPPRC
Def

Motor regression

3BICRA
Def

Developmental regression

3COX4I1
Lim

Developmental regression

3EPRS1

Cognitive regression

3POLR3K
Lim

Motor regression

3NUP62
Dis

Developmental regression

3SLC39A14

Developmental regression

3LINS1
Def

lines homolog 1

3BOLA3
Def

Developmental regression

3BSCL2
Def

Developmental regression

3FITM2
Def

Developmental regression

3FOLR1
Def

Developmental regression

3GTPBP2
Def

Developmental regression

3IBA57
Def

Developmental regression

3L2HGDH
Def

Developmental regression

3NARS2
Def

Developmental regression

3SEMA6B
Def

Developmental regression

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationSeizuresEpileptic encephalopathyStatus epilepticusInfantile spasms

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.