SLC25A19

solute carrier family 25 member 19
OMIM: 606521
PanelMode of inheritanceDetails
5 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, Amish type, 607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710, Microcephaly, Amish type (Disorders of thiamine metabolism)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, Amish type, 607196, Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY, AMISH TYPE, 607196, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY, AMISH TYPE, 607196, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE), 613710
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amish Lethal Microcephaly, Microcephaly, Amish type, 607196, Amish Lethal Microcephaly, 216535