Monogenic hearing loss
Gene: ALMS1EnsemblGeneIds (GRCh38): ENSG00000116127
EnsemblGeneIds (GRCh37): ENSG00000116127
OMIM: 606844, Gene2Phenotype
ALMS1 is in 24 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 expertCreated: 1 Feb 2016, 4:50 p.m.
Maria Bitner-Glindzicz (UCL)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- #203800: Alstrom syndrome
- OMIM
- 606844
- Clinvar variants
- Variants in ALMS1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Monogenic diabetes
- Unexplained kidney failure in young people
- Insulin resistance (including lipodystrophy)
- Dilated Cardiomyopathy and conduction defects
- Structural eye disease
- Alstrom syndrome
- Severe early-onset obesity
- Paediatric or syndromic cardiomyopathy
- DDG2P
- Ductal plate malformation
- Proteinuric renal disease
- Lipodystrophy - childhood onset
- Bardet Biedl syndrome
- Monogenic hearing loss
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ALMS1 were set to #203800: Alstrom syndrome
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
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Damian Smedley (Genomics England Curator)Mode of inheritance for ALMS1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ALMS1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert