Genes associated with “developmental regression”

Diagnostic yield calculator →
244 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
6
OT Score
0.37
2
28
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
100%
n=6
P/LP Variants
-
OT Score
-
3
PLA2G6 →

phospholipase A2 group VI

27
score
ClinGen: DefinitiveP2G #3GTR ↑

Developmental regression

Frequency
-
P/LP Variants
1
OT Score
0.33
4
MECP2 →

methyl-CpG binding protein 2

26
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
100%
n=3
P/LP Variants
2
OT Score
0.43
5
26
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
-
P/LP Variants
-
OT Score
-
6
GALC →

galactosylceramidase

25
score
ClinGen: DefinitiveP2G #7GTR ↑

Developmental regression

Frequency
40%
n=30
P/LP Variants
-
OT Score
0.33
7
25
score
ClinGen: DefinitiveP2G #10GTR ↑
Frequency
-
P/LP Variants
62
OT Score
-
8
23
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
54%
n=35
P/LP Variants
59
OT Score
-
9
IFIH1 →

interferon induced with helicase C domain 1

22
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Developmental regression

Frequency
20%
n=5
P/LP Variants
1
OT Score
0.27
22SPTAN1
Def
21CAD
Def

Developmental regression

21DNM1
Def

Developmental regression

20SGSH
Def

N-sulfoglucosamine sulfohydrolase

20CACNA1E
Def

Developmental regression

20FGF12
Def

Developmental regression

20PPP3CA
Def

Developmental regression

20SLC1A2
Def

Developmental regression

20SPTBN1
Def

Developmental regression

20TANC2
Def

Developmental regression

Consider

57 genes
20ATP7A
Def#1

Developmental regression

20SLC12A5
Lim

Developmental regression

18ACOX1
Def#6

Developmental regression

18HEXB
Def

Developmental regression

17CACNA1B
Mod

Developmental regression

17ASPA
Def

Developmental regression

15HTT
Def#13

Developmental regression

15GM2A
Def
15GNB1
Def

Developmental regression

15EBF3
Def

EBF transcription factor 3

13POLR3A
Def

Developmental regression

13AFG3L2
Def
13DDISBA

DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA

13DEE100

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100

13DEE108

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108; DEE108

13DEE113

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113; DEE113

13DEE36

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36

13DEE85

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

13DEE87

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87

13EPEO3

EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEO3

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

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
12CLN8
DefP:R

Developmental regression

12PAFAH1B1
12SURF1
Def

Developmental regression

11IDS
Def
11PCYT2

Developmental regression

11SCN8A
Def

Developmental regression

11SCN1A
Def

Developmental regression

11CNKSR2
Def

Loss of acquired spoken language

10POLR3B
Def

Developmental regression

10SPATA22
10NDUFAF6
Def

NADH:ubiquinone oxidoreductase complex assembly factor 6

10KARS1
Lim

Developmental regression

10SERAC1
Def

Developmental regression

10OPA3
ModP:R

outer mitochondrial membrane lipid metabolism regulator OPA3

10SDHB
DefSF

Developmental regression

9NDUFAF5
Def
9COX10
Def

Developmental regression

9COX6B1
Def

Developmental regression

9SCO1
Def

Developmental regression

9TACO1
Def

Developmental regression

9NUP214

nucleoporin 214

9PIGA
Def

Developmental regression

9TPP1
DefP:R

Developmental regression

8SMPD1
Def

Developmental regression

8CLN5
DefP:R

Developmental regression

8EHMT1
Def

Developmental regression

Possible

108 genes — click to expand
8CLN6
DefP:R

CLN6 transmembrane ER protein

8PSAP
Def

Developmental regression

8SIN3A
Def

Developmental regression

8SYNGAP1
Def

Developmental regression

8SDHD
DefSF

Developmental regression

8GCDH
Def

Developmental regression

8SDHAF1
Def

Developmental regression

7SCO2
Def

Developmental regression

7AARS2
Def

Developmental regression

7SLC30A9
Def

Developmental regression

7CUX2
Mod

Developmental regression

7OPN1LW
Def
7POLR2A
Def
7SPEN
Def
7TRIO
Def
7MT-ND1
Def

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

7NDUFS1
Def

Developmental regression

7UNC13A
Def

unc-13 homolog A

7NMNAT1
Def

nicotinamide nucleotide adenylyltransferase 1

7ADAR
Def

Developmental regression

7AHDC1
Def

Developmental regression

7NDUFS2
Def

Developmental regression

7OPA1
DefP:R

Motor regression

7LYRM7
Def

Developmental regression

7TBCD
Def

Developmental regression

6COA8
Def

Developmental regression

6SGPL1
Def

Developmental regression

6IRF2BPL
Def

Developmental regression

6NAXE
Def

Developmental regression

6GFAP
Def

Developmental regression

6BCKDK
Def

Developmental regression

6NDUFS4
Def

NADH:ubiquinone oxidoreductase subunit S4

6NDUFS7
Def

Developmental regression

6NDUFV2
Def

Developmental regression

6NTNG2

Developmental regression

6MTRFR
Def

Developmental regression

6SLC19A3
Def

Developmental regression

6HSD17B10
Def

Developmental regression

6ISCA2
Def

Developmental regression

6NAXD
Def

Developmental regression

6CD40LG
Def

Developmental regression

6CIC
Def

Developmental regression

6DNM1L
Def

Developmental regression

6ROGDI
Def

Developmental regression

5ATP5MK
Mod

Developmental regression

5FDXR
Def

Motor regression

5NDUFA2
Def

Developmental regression

5TBC1D24
Def

Developmental regression

5HNRNPH2
Def

Developmental regression

5IL1RAPL1
Def

interleukin 1 receptor accessory protein like 1

5DEE37

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37; DEE37

5MRXSCH

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

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

5HNRNPU
Def

Developmental regression

5IQSEC2
Def

Developmental regression

5MPV17
Def

Developmental regression

5NFU1
Def

Motor regression

5NGLY1
Def

Motor regression

5WARS2
Def

Developmental regression

4SATB1
Def

Developmental regression

4ADPRS

Developmental regression

4KCNT1
Def

Developmental regression

4KCNH5
Def

Developmental regression

4EIF3F
Def

Developmental regression

4CDK19
4METTL16
4OPSIN-LCR
4TAF8
4YWHAE
4COG8
Def

Developmental regression

4KLHL20
Mod

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

4GABRB1
Lim

Developmental regression

4LIPT1
Mod

Developmental regression

4KDM6B
Def

Developmental regression

3BICRA
Def

Developmental regression

3COX4I1
Lim

Developmental regression

3POLR3K
Lim

Motor regression

3NUP62
Dis

Developmental regression

3SLC39A14

Developmental regression

3LINS1
Def

lines homolog 1

3AGTPBP1
Def

Developmental regression

3BOLA3
Def

Developmental regression

3BSCL2
Def

Developmental regression

3FITM2
Def

Developmental regression

3FOLR1
Def

Developmental regression

3IBA57
Def

Developmental regression

3ITPR1
Def

Developmental regression

3KCNT2
Def

Developmental regression

3L2HGDH
Def

Developmental regression

3LGI1
Def

Developmental regression

3NAGA
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.