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Hearing loss

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

3 reviews

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#203800:Alstrom syndrome[Short stature; Truncal obesity (onset in childhood); Hearing loss, progressive sensorineuralOtitis media; Cone-rod dystrophyPigmentary retinopathyPhotophobia (infancy)Nystagmus (infancy)BlindnessSubcapsular cataracts; GingivitisDiscolored enamel; Dilated cardiomyopathy (infancy)Congestive heart failure; AtherosclerosisHypertension; AsthmaRecurrent pulmonary infections; Gynecomastia; Hepatitis, chronic activeHepatomegalyHepatic steatosis; Nephritis, chronicRenal failureRenal structural anomalies (reported in 1 family)Narrowing of the ureteropelvic junctionsDeformities of the calyceal system; Advanced bone age; Hyperostosis frontalis interna; KyphosisScoliosis; No polydactyly; Pes planus; Acanthosis nigricans; Alopecia; Developmental delay; Menstrual irregularitiesInsulin resistant diabetesHypergonadotropic hypogonadism (males)Diabetes insipidusHypothyroidismMultinodular goiterGrowth hormone deficiency; HyperinsulinemiaHyperuricemiaHypertriglyceridemiaLow HDL-cholesterolNormal total cholesterolElevated serum transaminases]

Damian Smedley (Genomics England Curator)

Comment on list classification: Good evidence from OMIM and expert
Created: 1 Feb 2016, 4:50 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

causes syndromic hearing loss (Alstrom) which is unlikely to be missed. However I would want to know about a Tier 1 variant in this gene.
Created: 19 Oct 2015, 6:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALMS1 were set to #203800: Alstrom syndrome

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ALMS1 were set to PMID:10598815; 11941369; 11941370; 16000322; 17206865; 17594715; 17850632; 21877133; 21901789; 9063741; 9205841; 9409865; 9921899

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ALMS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert