Ductal plate malformation
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Alstrom syndrome (203800)
- Tags
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Fetal anomalies
- Renal ciliopathies
- Proteinuric renal disease
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- DDG2P
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Unexplained kidney failure in young people
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Severe insulin resistance and lipodystrophy syndromes
- Severe early-onset obesity
- Monogenic hearing loss
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Bardet Biedl syndrome
- Limb disorders
- Alstrom syndrome
- Glaucoma (developmental)
- Retinal disorders
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
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 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Demoted from red to amber as i
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to ALMS1. Rating Changed from Red List (low evidence) to No List (delete)
6 Nov 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ALMS1 was added gene: ALMS1 was added to Ductal plate malformation (DPM). Sources: Expert list,Emory Genetics Laboratory Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome (203800)