Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.13
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Other
Phenotypes
- Marie Unna hereditary hypotrichosis (MUHH)
- Alopecia universalis, OMIM:203655
Tags
- promoter
- curated-variant-list
- non-coding-known-pathogenic
|
Version 3.29
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Marie Unna hereditary hypotrichosis (MUHH)
- Alopecia universalis, OMIM:203655
- Atrichia with papular lesions, OMIM:209500
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ATRICHIA WITH PAPULAR LESIONS
- ALOPECIA UNIVERSALIS
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ALOPECIA UNIVERSALIS 146550
- ATRICHIA WITH PAPULAR LESIONS 209500
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Alopecia universalis, 203655
- Atrichia with papular lesions, 209500
- Hypotrichosis 4, 146550
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Alopecia universalis, 203655
- Atrichia with papular lesions, 209500
- Hypotrichosis 4, 146550
|