Genomics England
GMS Panels
Panels
Genes and Entities

HEXA

hexosaminidase subunit alpha
OMIM: 606869
PanelMode of inheritanceDetails
12 panels
Green
in Ataxia and cerebellar anomalies - childhood onset
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies, childhood onset
Signed-off version 9.22
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-GANGLIOSIDOSIS TYPE 1 272800
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hex A pseudodeficiency, 272800 AR, GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
Signed-off version 9.56
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease, 272800, GM2-gangliosidosis, several forms, 272800
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease, OMIM:272800, Late-onset Tay-Sachs disease
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease, 272800, GM2-gangliosidosis, several forms, 272800, GM2-GANGLIOSIDOSIS TYPE 1 (GM2G1)
Green
in Leukodystrophy, adult onset
R-numbers: R62
Signed-off version 7.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800
Green
in Lysosomal storage disorder
R-numbers: R276
Signed-off version 3.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease OMIM:272800, GM2-gangliosidosis, several forms OMIM:272800, Tay-Sachs disease MONDO:0010100
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GM2-gangliosidosis, several forms, OMIM:272800, Tay-Sachs disease, OMIM:272800
Green
in Tay-Sachs disease
R-numbers: R286
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Tay-Sachs disease, OMIM:272800, Tay-Sachs disease, MONDO:0010100