Genomics England
GMS Panels
Panels
Genes and Entities

SLC52A3

solute carrier family 52 member 3
OMIM: 613350
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BROWN-VIALETTO-VAN LAERE SYNDROME 211530
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fazio-Londe disease, dHMN, Brown-Vialetto-Van Laere syndrome 1
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 1 211530, Fazio-Londe disease 211500
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 1, OMIM:211530, Brown-Vialetto-van Laere syndrome 1, MONDO:0024537
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
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 3.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Brown-Vialetto-Van Laere syndrome 1, OMIM:211530