Genomics England

ALMS1

ALMS1, centrosome and basal body associated protein

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Alstrom syndrome R-numbers: R106 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ALSTROM SYNDROME 203800
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ALSTROM SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ALSTROM SYNDROME, 203800
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.57	BIALLELIC, autosomal or pseudoautosomal	Phenotypes #203800: Alstrom syndrome
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Alstrom Syndrome, Bardet-Biedl Syndrome, 203800, Alstrom syndrome
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes OMIM 203800
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl Syndrome, Alstrom syndrome, OMIM:203800
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Alstrom syndrome, 203800
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Alstrom syndrome, OMIM:203800