FAM126A

family with sequence similarity 126 member A
OMIM: 610531
PanelMode of inheritanceDetails
5 panels
Green
in Cataracts
R-numbers: R31
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination and Congenital Cataract, Leukodystrophy hypomyelinating 5, Leukodystrophy hypomyelinating type 5
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 5
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
Leukodystrophy, hypomyelinating, 5, 610532, LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5)
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination and Congenital Cataract, Leukodystrophy, hypomyelinating, 5, 610532