Monogenic diabetes
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
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:45 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Phenotypes
-
- Alstrom syndrome
- Tags
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Panels with this gene
-
- Limb disorders
- Ophthalmological ciliopathies
- Fetal anomalies
- Proteinuric renal disease
- Dystonia, chorea or related movement disorder, childhood onset
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Severe insulin resistance and lipodystrophy syndromes
- Intellectual disability
- Structural eye disease
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Monogenic hearing loss
- Unexplained kidney failure in young people
- Retinal disorders
- Ductal plate malformation
- Renal ciliopathies
- DDG2P
- Severe early-onset obesity
- Rare multisystem ciliopathy disorders
- Glaucoma (developmental)
- Bardet Biedl syndrome
- Paediatric or syndromic cardiomyopathy
- Alstrom syndrome
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: ALMS1.
30 Jan 2019, Gel status: 0
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
25 Jan 2019, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to ALMS1. Rating Changed from Green List (high evidence) to No List (delete)
18 Dec 2018, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Alstrom syndrome for gene: ALMS1
18 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ALMS1 was added gene: ALMS1 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome