Monogenic hearing loss
Gene: ALMS1
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]
Comment on list classification: Good evidence from OMIM and expertCreated: 1 Feb 2016, 4:50 p.m.
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
Phenotypes for ALMS1 were set to #203800: Alstrom syndrome
Publications for ALMS1 were set to PMID:10598815; 11941369; 11941370; 16000322; 17206865; 17594715; 17850632; 21877133; 21901789; 9063741; 9205841; 9409865; 9921899
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ALMS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert