Genomics England

ABHD5

abhydrolase domain containing 5

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CHANARIN-DORFMAN SYNDROME 275630
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CHANARIN-DORFMAN SYNDROME
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 3.30	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chanarin-Dorfman syndrome, OMIM:275630
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chanarin-Dorfman syndrome, OMIM:275630
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chanarin-Dorfman syndrome 275630, Neutral lipid storage disease (Disorders of lipolysis)
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chanarin-Dorfman syndrome, OMIM:275630
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.27	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chanarin-Dorfman syndrome, OMIM:275630
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Chanarin-Dorfman syndrome, OMIM:275630