Genes associated with “progressive neurologic deterioration”

Diagnostic yield calculator →
82 genes foundHPO: Progressive neurologic deteriorationOpen Targets: Progressive neurologic deterioration4 PanelApp panels
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
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Strong Candidates

4 genes
1
31
score
ClinGen: DefinitiveP2G #40GTR ↑
Frequency
-
P/LP Variants
69
OT Score
-
2
29
score
ClinGen: DefinitivePanel: Green ↑P2G #1GTR ↑

Progressive neurologic deterioration

Frequency
82%
n=22
P/LP Variants
-
OT Score
-
3
21
score
ClinGen: DefinitivePanel: Green ↑P2G #2GTR ↑

Progressive neurologic deterioration

Frequency
-
P/LP Variants
-
OT Score
-
4
20
score
ClinGen: DefinitivePanel: Green ↑P2G #20GTR ↑

Progressive neurologic deterioration

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

Consider

26 genes
19FOLR1
DefP:G
18SCN1A
DefP:G

sodium voltage-gated channel alpha subunit 1

18GCH1
DefP:G

Progressive neurologic deterioration

18PSAP
DefP:G#9

Progressive neurologic deterioration

18PDGFRB
P:G

Progressive neurologic deterioration

17NOTCH3
DefP:G

notch receptor 3

17ADSL
Def

adenylosuccinate lyase

15PDHA1
DefP:R
14MECP2
Def

methyl-CpG binding protein 2

13IMNEPD1

NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 1; IMNEPD1

13LEPID

LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID

13LEUDEN

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

13MTHFR
Def
13SLC17A5
Def
13HEXB
DefP:G#8

Progressive psychomotor deterioration

12EIF2B5
DefP:G

Progressive neurologic deterioration

12GRN
DefP:G

Progressive language deterioration

11GLB1
DefP:A#7

Progressive psychomotor deterioration

11ITM2B
ModP:G#12

Progressive neurologic deterioration

11SUMF1
Def#3

Rapid neurologic deterioration

10IDUA
Def#4

Progressive neurologic deterioration

10PTS
DefP:A

Progressive neurologic deterioration

10QDPR
DefP:A

Progressive neurologic deterioration

9CERS1
Mod

Progressive neurologic deterioration

9CNTNAP2
Def#6

Progressive language deterioration

9HSD17B10
Def#19

Progressive neurologic deterioration

Possible

39 genes — click to expand
8NAGLU
DefP:R#11

Progressive neurologic deterioration

8TINF2
DefP:R#17

Progressive neurologic deterioration

8MCOLN1
DefP:R

Progressive neurologic deterioration

7CLN3
Def
7EHMT1
Def
7INPPL1
Def
7MTO1
Def
7MYH9
Def
7RAG2
Def
6RAB27A
Def#10

Progressive neurologic deterioration

6ERCC6
DefP:R

Progressive neurologic deterioration

6MTFMT
Def

Progressive neurologic deterioration

6CTNS
Def

Progressive neurologic deterioration

6TIMMDC1
Def

Progressive neurologic deterioration

6HEPACAM
Def

Progressive neurologic deterioration

5ADLDTY

Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical

5AGS9

AICARDI-GOUTIERES SYNDROME 9; AGS9

5CLPB
Lim
5GD2

GAUCHER DISEASE, TYPE II; GD2

5HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

5HPABH4B

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

5HPABH4C

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C

5ML4

MUCOLIPIDOSIS IV; ML4

5NDUFA6
Mod#18

Progressive neurologic deterioration

5MICOS13
Def

Progressive neurologic deterioration

4DDX43
4DPPA5
4EEF1A1
4FOLR2
4KCNQ5
4KHDC1
4KHDC1L
4KHDC3L
4PHOX2A
4RIMS1
4RNU4ATAC
Def

Progressive neurologic deterioration

3CYC1
Mod

Progressive neurologic deterioration

3TBXAS1
Def

thromboxane A synthase 1

3GBA1
Def

Progressive neurologic deterioration

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