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Intellectual disability syndromic and non-syndromic

Gene: HEXA

Green List (high evidence)

HEXA (hexosaminidase subunit alpha)
EnsemblGeneIds (GRCh38): ENSG00000213614
EnsemblGeneIds (GRCh37): ENSG00000213614
OMIM: 606869, Gene2Phenotype
HEXA is in 19 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Intellectual deterioration is a differential diagnosis of ID and can appear in later onset Tay-Sachs.

This gene-disease association has been classified as Definitive by ClinGen General GCEP on 27/05/2020 - https://search.clinicalgenome.org/CCID:005053
Created: 18 Sep 2024, 3:08 a.m. | Last Modified: 18 Sep 2024, 3:08 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Tay-Sachs disease MONDO:0010100

Publications

History Filter Activity

14 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hexa has been classified as Green List (High Evidence).

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HEXA were changed from to Tay-Sachs disease MONDO:0010100

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HEXA were set to

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HEXA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HEXA was added gene: HEXA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HEXA was set to Unknown