Retinal disorders
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 panels
4 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alstrom syndrome
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Alstrom syndrome gene; syndromic forms have been included in this panel.Created: 7 Jun 2016, 11:55 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Is it a confirmed DD gene for Alstrom syndrome, and has multiple cases with multiple different variants reported on OMIM.Created: 2 Jun 2016, 11:46 a.m.
This gene was removed from the Manchester Genetic Retinal Degeneration Conditions panel due to technical/alignment issues.Created: 2 Jun 2016, 8:03 a.m.
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 15 Mar 2016, 10:45 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- Alstrom syndrome, 203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Monogenic diabetes
- Unexplained kidney failure in young people
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Alstrom syndrome
- Intellectual disability
- Fetal anomalies
- DDG2P
- Severe early-onset obesity
- Paediatric or syndromic cardiomyopathy
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- Bardet Biedl syndrome
- Renal ciliopathies
- Monogenic hearing loss
- Limb disorders
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ALMS1 were changed from Eye Disorders; Alstrom syndrome to Eye Disorders; Alstrom syndrome, 203800
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ALMS1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to Eye Disorders; Alstrom syndrome
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)ALMS1 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green