Bardet-Biedl Syndrome

Gene: ALMS1

Green List (high evidence)

ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels

2 reviews

Beth Hoskins (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
203800

Publications

Caroline Wright (Genomics England Curator)

Comment on list classification: Alstrom syndrome
17 Dec 2015, 2:37 p.m.

History Filter Activity

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALMS1 were set to Alstrom syndrome; Bardet-Biedl Syndrome; 203800

1 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ALMS1 were set to PMID: 22773737

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Dec 2015, Gel status: 4

Set Phenotypes

Caroline Wright (Genomics England Curator)

Phenotypes for ALMS1 were set to Alstrom syndrome; Bardet-Biedl Syndrome

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ALMS1 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ALMS1 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ALMS1 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory