Genomics England

SLC52A2

solute carrier family 52 member 2

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Cerebellar ataxia, MONDO:0000437
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 2
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bwon-Vialetto-Van Laere syndrome 2, 614707
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Hereditary sensory and autonomic neuropathy, MONDO:0015364
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 2 614707
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 2, OMIM:614707, brown-Vialetto-van Laere syndrome 2, MONDO:0013867
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 2, OMIM:614707, MONDO:0013867, Sensorineural hearing loss disorder, MONDO:0020678
Green in Optic neuropathy R-numbers: R41 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Optic atrophy, MONDO:0003608
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707, MONDO:0013867, Hereditary sensory and autonomic neuropathy, MONDO:0015364