Genomics England
GMS Panels
Panels
Genes and Entities

FAM126A

family with sequence similarity 126 member A
OMIM: 610531
PanelMode of inheritanceDetails
5 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 4.14
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 5
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 5, 610532, LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5)
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination and Congenital Cataract, Leukodystrophy, hypomyelinating, 5, 610532