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Polydactyly

Gene: BBS10

Green List (high evidence)
BBS10 (Bardet-Biedl syndrome 10)
EnsemblGeneIds (GRCh38): ENSG00000179941
EnsemblGeneIds (GRCh37): ENSG00000179941
OMIM: 610148, Gene2Phenotype
BBS10 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients
Created: 8 Oct 2020, 3:45 a.m. | Last Modified: 8 Oct 2020, 3:45 a.m.
Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bardet-Biedl syndrome 10, MIM# 615987

Publications

Created: 8 Oct 2020, 3:45 a.m.
Last Modified: 8 Oct 2020, 3:45 a.m.
Panel version: Imported from Bardet Biedl syndrome panel version 0.45

Anand Vasudevan (Royal Women's Hospital)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 21 Jul 2020, 2:49 a.m.
Last Modified: 21 Jul 2020, 2:49 a.m.
Panel version: 0.36

History Filter Activity

21 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bbs10 has been classified as Green List (High Evidence).

21 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BBS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BBS10 was added gene: BBS10 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BBS10 was set to Unknown