Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: ALMS1
ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
1 review
Sian Ellard (University of Exeter Medical School)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Alstrom syndrome
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Renal ciliopathies
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Proteinuric renal disease
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Unexplained kidney failure in young people
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Severe insulin resistance and lipodystrophy syndromes
- Severe early-onset obesity
- Monogenic hearing loss
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Bardet Biedl syndrome
- Alstrom syndrome
- Glaucoma (developmental)
- DDG2P
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
History Filter Activity
25 Jul 2016, Gel status: 4
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
29 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to Alstrom syndrome
29 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Green List (High Evidence).
7 Jun 2016, Gel status: 0
Set Mode of Inheritance
Chris Boustred (Genomics England)Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal
17 Aug 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Eligibility statement prior genetic testing