TMEM106B

transmembrane protein 106B
OMIM: 613413
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
TMEM106B related hypomyelinating leukodystrophy
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Leukodystrophy, hypomyelinating, 16, OMIM:617964, Leukodystrophy, hypomyelinating, 16, MONDO:0054791
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Leukodystrophy, hypomyelinating, 16, OMIM:617964, Leukodystrophy, hypomyelinating, 16, MONDO:0054791