Genomics England
GMS Panels
Panels
Genes and Entities

FAM126A

family with sequence similarity 126 member A
OMIM: 610531
PanelMode of inheritanceDetails
6 panels
Green
in Bilateral congenital or childhood onset cataracts
R-numbers: R31
Signed-off version 8.5
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 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 5 610532
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
LEUKODYSTROPHY HYPOMYELINATING TYPE 5
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 5, OMIM:610532, hypomyelinating leukodystrophy 5, MONDO:0012514
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 11.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leukodystrophy, hypomyelinating, 5, 610532, LEUKODYSTROPHY HYPOMYELINATING TYPE 5 (HLD5)
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypomyelination and Congenital Cataract, Leukodystrophy, hypomyelinating, 5, 610532