Genomics England

solute carrier family 52 member 3

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BROWN-VIALETTO-VAN LAERE SYNDROME 211530
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 3.66	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Fazio-Londe disease, dHMN, Brown-Vialetto-Van Laere syndrome 1
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 1 211530, Fazio-Londe disease 211500
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Brown-Vialetto-Van Laere syndrome 1, OMIM:211530