HEXA

hexosaminidase subunit alpha
OMIM: 606869
PanelMode of inheritanceDetails
11 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800
R-numbers: R57
Signed-off version 2.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hex A pseudodeficiency, 272800 AR, GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-GANGLIOSIDOSIS TYPE 1 272800
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease, 272800, GM2-gangliosidosis, several forms, 272800
R-numbers: R78
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease, OMIM:272800, Late-onset Tay-Sachs disease
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease, 272800, GM2-gangliosidosis, several forms, 272800, GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1)
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease OMIM:272800, GM2-gangliosidosis, several forms OMIM:272800, Tay-Sachs disease MONDO:0010100
R-numbers: R58
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, OMIM:272800, Tay-Sachs disease, OMIM:272800
R-numbers: R62
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800