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Cardiomyopathies - including childhood onset

Gene: ALMS1

Green List (high 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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Green List (high evidence)

Presentation with congestive cardiac failure within the first 3 months of life is common patients with Alstrom Syndrome.
Sources: Expert Review
Created: 26 Sep 2019, 12:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM 203800

Publications

History Filter Activity

2 Dec 2019, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ALMS1 were set to PMID: 15689433

2 Dec 2019, Gel status: 3

Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ALMS1. Source NHS GMS was added to ALMS1. Rating Changed from No List (delete) to Green List (high evidence)

26 Sep 2019, Gel status: 0

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

Rebecca Whittington (South West GLH)

gene: ALMS1 was added gene: ALMS1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALMS1 were set to PMID: 15689433 Phenotypes for gene: ALMS1 were set to OMIM 203800 Penetrance for gene: ALMS1 were set to Complete Review for gene: ALMS1 was set to GREEN