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Intellectual disability syndromic and non-syndromic

Gene: HEXB

Green List (high evidence)

HEXB (hexosaminidase subunit beta)
EnsemblGeneIds (GRCh38): ENSG00000049860
EnsemblGeneIds (GRCh37): ENSG00000049860
OMIM: 606873, Gene2Phenotype
HEXB is in 16 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Intellectual deterioration appears to be a differential diagnosis in later onset Sandhoff Disease.

Classified as Definitive by ClinGen Lysosomal Disease GCEP on 15/09/2023 - https://search.clinicalgenome.org/CCID:005054
Created: 18 Sep 2024, 3:14 a.m. | Last Modified: 18 Sep 2024, 3:14 a.m.
Panel Version: 0.6222

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sandhoff disease MONDO:0010006

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: hexb 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: HEXB were changed from Sandhoff disease MONDO:0010006 to Sandhoff disease MONDO:0010006

14 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HEXB were changed from to Sandhoff disease MONDO:0010006

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HEXB were set to 35420740

14 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HEXB 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: HEXB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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