Bardet-Biedl Syndrome
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
2 reviews
Beth Hoskins (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
203800
Publications
Caroline Wright (Genomics England Curator)
Comment on list classification: Alstrom syndromeCreated: 17 Dec 2015, 2:37 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Alstrom syndrome
- Bardet-Biedl Syndrome
- 203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Publications
-
- PMID: 22773737
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Monogenic hearing loss
- Bardet Biedl syndrome
- Monogenic diabetes
- Insulin resistance (including lipodystrophy)
- Limb disorders
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Alstrom syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Severe early-onset obesity
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to Alstrom syndrome; Bardet-Biedl Syndrome; 203800
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ALMS1 were set to PMID: 22773737
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Caroline Wright (Genomics England Curator)Phenotypes for ALMS1 were set to Alstrom syndrome; Bardet-Biedl Syndrome
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Bardet-Biedl Syndrome panel. Sources: Eligibility statement prior genetic testing
Added New Source
GEL ()ALMS1 was added to Bardet-Biedl Syndrome panel. Sources: UKGTN
Added New Source
GEL ()ALMS1 was added to Bardet-Biedl Syndrome panel. Sources: Emory Genetics Laboratory