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Intellectual disability syndromic and non-syndromic

Gene: GLB1

Green List (high evidence)

GLB1 (galactosidase beta 1)
EnsemblGeneIds (GRCh38): ENSG00000170266
EnsemblGeneIds (GRCh37): ENSG00000170266
OMIM: 611458, Gene2Phenotype
GLB1 is in 19 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Developmental delay/intellectual disability can be a feature of the condition.
Created: 19 Oct 2024, 1:04 a.m. | Last Modified: 19 Oct 2024, 1:04 a.m.
Panel Version: 0.6510

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GM1 gangliosidosis MONDO:0018149; mucopolysaccharidosis type 4B MONDO:0009660

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: glb1 has been classified as Green List (High Evidence).

19 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GLB1 were changed from to GM1 gangliosidosis MONDO:0018149; mucopolysaccharidosis type 4B MONDO:0009660

19 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GLB1 were set to

19 Oct 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GLB1 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: GLB1 was added gene: GLB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLB1 was set to Unknown