Genes associated with “developmental regression

284 genes foundHPO: Developmental regression1 PanelApp panel
Some sources returned errors (1)

openTargets: Error: OT search: 403

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

17 genes
33
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
100%
n=6
P/LP Variants
1
OT Score
-
31
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
-
P/LP Variants
1
OT Score
-
28
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
100%
n=8
P/LP Variants
10
OT Score
-
25
score
ClinGen: DefinitiveP2G #10GTR ↑
Frequency
-
P/LP Variants
40
OT Score
-
23
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
54%
n=35
P/LP Variants
65
OT Score
-
23
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
100%
n=1
P/LP Variants
-
OT Score
-
23
score
ClinGen: DefinitiveGTR ↑

Developmental regression

Frequency
30%
n=30
P/LP Variants
1
OT Score
-
22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
21PLA2G6
Def#3

Developmental regression

21DNM1
Def

Developmental regression

20FGF12
Def

Developmental regression

20FRRS1L
Def

Developmental regression

20PPP3CA
Def

Developmental regression

20SPTBN1
Def

Developmental regression

20TANC2
Def

Developmental regression

20UBTF
Def

Developmental regression

Consider

64 genes
20ATP7A
Def#1

Developmental regression

20SLC12A5
Lim

Developmental regression

19GALC
Def#7

Developmental regression

18MECP2
Def

Developmental regression

18FOXG1
Def

Developmental regression

18ACOX1
Def#6

Developmental regression

18HEXB
Def

Developmental regression

17ASPA
Def

Developmental regression

15HTT
Def#13

Developmental regression

15GM2A
Def
15BRPF1
Def
14IDS
Def
13POLR3A
Def

Developmental regression

13AFG3L2
Def

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113; DEE113

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36; DEE36

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47; DEE47

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

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9

13GNS
Def
13HGSNAT
Def

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

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

INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 5; MRD5

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

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

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

13NAGLU
Def

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

13SGSH
Def

SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

13TBCK
Def

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50; XLID50

12CLN8
DefP:R

Developmental regression

12IFIH1
DefP:G

Developmental regression

12SURF1
Def

Developmental regression

12SYNGAP1
Def
11VHL
DefSF
11SCN1A
Def

Developmental regression

11KCTD7
DefP:R

Developmental regression

10POLR3B
Def

Developmental regression

10ABAT
Mod
10KARS1
Lim

Developmental regression

10SDHB
DefSF

Developmental regression

9ATP2B2
Def
9FANCD2
Def
9COX10
Def

Developmental regression

9COX6B1
Def

Developmental regression

Developmental regression

9SCO1
Def

Developmental regression

9TACO1
Def

Developmental regression

9EBF3
Def
9GRIP1
DefP:R
9KMT2E
Def

Developmental regression

8SMPD1
Def

Developmental regression

8CLN5
DefP:R

Developmental regression

8EIF2B1
Def

Developmental regression

8AGA
Def

Developmental regression

8CDKL5
Def

Developmental regression

Possible

148 genes — click to expand
8NDUFV1
Def

Developmental regression

8PSAP
Def

Developmental regression

8GNB1
Def

Developmental regression

8SIN3A
Def

Developmental regression

8SDHA
Def

Developmental regression

8SDHD
DefSF

Developmental regression

8GCDH
Def

Developmental regression

8SDHAF1
Def

Developmental regression

7SCO2
Def

Developmental regression

7CRELD1
Lim
7HIBCH
Def

Developmental regression

Developmental regression

7HMGA2
Def

Motor regression

7MSRB3
Def
7OPN1LW
Def
7PMM2
Def
7POLR2A
Def
7RXYLT1
Def
7SPEN
Def
7TBK1
Def
7TRIO
Def
7USP7
Def
7NDUFS1
Def

Developmental regression

7SON
Def

Developmental regression

7ADAR
Def

Developmental regression

7NDUFS2
Def

Developmental regression

7OPA1
DefP:R

Motor regression

7TBCD
Def

Developmental regression

6COA8
Def

Developmental regression

Developmental regression

6NAXE
Def

Developmental regression

6GFAP
Def

Developmental regression

6BCKDK
Def

Developmental regression

6NDUFS4
Def

Developmental regression

6NDUFS7
Def

Developmental regression

6NDUFV2
Def

Developmental regression

6CIDEC
Mod

Developmental regression

Developmental regression

Developmental regression

6CIC
Def

Developmental regression

6PIGT
Def

Developmental regression

Developmental regression

6ROGDI
Def

Developmental regression

5ATP5MK
Mod

Developmental regression

5FDXR
Def

Motor regression

5NDUFA2
Def

Developmental regression

Developmental regression

5SCN8A
Def

Developmental regression

5MED27
Def

Developmental regression

Developmental regression

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37; DEE37

5PCDH19
Def

Developmental regression

5GABRA1
Def

Developmental regression

5HPDL
Mod

Developmental regression

5MFF
Mod

Developmental regression

Cognitive regression

5PIGY
Lim

Developmental regression

5SATB1
Def

Developmental regression

5COX15
Def

Motor regression

5FUCA1
Def

Developmental regression

5GLB1
Def

Motor regression

5IQSEC2
Def

Developmental regression

5MPV17
Def

Developmental regression

5NFU1
Def

Motor regression

5WARS2
Def

Developmental regression

Motor regression

Developmental regression

Developmental regression

4KCNH5
Def

Developmental regression

4EIF3F
Def

Developmental regression

4COG8
Def

Developmental regression

4KLHL20
Mod

Developmental regression

4TTC19
Def

Cognitive regression

4ATP1A2
Def

Developmental regression

4TFE3
Def

Developmental regression

4ATP11A
Mod

Developmental regression

Cognitive regression

4CRLS1
Mod

Developmental regression

4FAR1
Mod

Developmental regression

4GABBR2
Mod

Developmental regression

4GABRB1
Lim

Developmental regression

4LIPT1
Mod

Developmental regression

4KDM6B
Def

Developmental regression

4LRPPRC
Def

Motor regression

3BICRA
Def

Developmental regression

3COX4I1
Lim

Developmental regression

Cognitive regression

3PET117
Lim

Developmental regression

3POLR3K
Lim

Motor regression

Developmental regression

3STN1
Mod

Motor regression

3NUP62
Dis

Developmental regression

Developmental regression

3BOLA3
Def

Developmental regression

3BSCL2
Def

Developmental regression

3FITM2
Def

Developmental regression

3FOLR1
Def

Developmental regression

3GTPBP2
Def

Developmental regression

3IBA57
Def

Developmental regression

3ITPR1
Def

Developmental regression

3KCNT2
Def

Developmental regression

3LGI1
Def

Developmental regression

3NAGA
Def

Developmental regression

3SEMA6B
Def

Developmental regression

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