This Panel is marked as Internal
ClinGen Gene Validity Curations
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
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 11:51 a.m.
Source: ClinGen Gene Validity Classification Summary. Determined as DEFINITIVE by calculated classification (dated: 10/13/2016) and DEFINITIVE by Expert curation, reviewed by the ClinGen Hearing Loss Working Group (dated 02/10/2017). Available here: https://search.clinicalgenome.org/kb/gene-validity/6238.Created: 12 Apr 2017, 2:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- ClinGen
- Expert Review Green
- Other
- Phenotypes
-
- Alstrom syndrome
- ORPHA64
- OMIM:203800
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Severe early-onset obesity
- DDG2P
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Alstrom syndrome
- Monogenic diabetes
- Monogenic hearing loss
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Severe insulin resistance and lipodystrophy syndromes
- Limb disorders
- Intellectual disability
- Proteinuric renal disease
- Paediatric or syndromic cardiomyopathy
- Unexplained kidney failure in young people
- Ductal plate malformation
- Bardet Biedl syndrome
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Glaucoma (developmental)
- Structural eye disease
History Filter Activity
20 Jun 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to ClinGen Gene Validity Curationspanel. Source: ClinGen
12 Apr 2017, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to Alstrom syndrome; ORPHA64; OMIM:203800
12 Apr 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
12 Apr 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
12 Apr 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to ClinGen Gene Validity Curationspanel. Sources: Other
12 Apr 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ALMS1 was created by ellenmcdonagh