SLC17A5

solute carrier family 17 member 5
OMIM: 604322
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INFANTILE SIALIC ACID STORAGE DISORDER 269920, SALLA DISEASE 604369
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SALLA DISEASE, INFANTILE SIALIC ACID STORAGE DISORDER
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salla disease, OMIM:604369, Sialic acid storage disorder, infantile, OMIM:269920
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salla disease, OMIM:604369, Sialic acid storage disorder, infantile, OMIM:269920
R-numbers: R276
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salla disease OMIM:604369, Salla disease MONDO:0011449, Sialic acid storage disorder, infantile OMIM:269920, free sialic acid storage disease, infantile form MONDO:0010027
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Salla disease, OMIM:604369, Sialic acid storage disorder, infantile, OMIM:269920
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy