Dilated Cardiomyopathy and conduction defects

Gene: ALMS1

Red List (low evidence)

ALMS1 (ALMS1, centrosome and basal body associated protein)
EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 25 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added to the panel by expert reviewer.
Created: 8 Mar 2019, 4:43 p.m.

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

Green List (high evidence)

Sources: Literature
Created: 14 Feb 2019, 1:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy

Publications

  • PMID: 2030
  • 1444

History Filter Activity

8 Mar 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: alms1 has been classified as Red List (Low Evidence).

8 Mar 2019, Gel status: 0

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: ALMS1 were set to PMID: 2030; 1444

14 Feb 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

gene: ALMS1 was added gene: ALMS1 was added to Dilated cardiomyopathy - teen and adult. Sources: Literature Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to PMID: 2030; 1444 Phenotypes for gene: ALMS1 were set to cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy Penetrance for gene: ALMS1 were set to Complete Review for gene: ALMS1 was set to GREEN