Genomics England

vacuolar protein sorting 4 homolog A

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CIMDAG syndrome
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CIMDAG syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes CIMDAG Syndrome, biallelic, CIMDAG Syndrome, monoallelic
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CIMDAG syndrome, OMIM:619273
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CIMDAG syndrome
Green in Rare anaemia R-numbers: R92 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes CIMDAG syndrome