Genomics England
GMS Panels
Panels
Genes and Entities

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1
OMIM: 614982
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Isolated Arhinia/Bosma Arhinia syndrome
Green
in Facioscapulohumeral muscular dystrophy - extended testing
R-numbers: R345
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Isolated Arhinia/Bosma Arhinia syndrome
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.40
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901, facioscapulohumeral muscular dystrophy 2, MONDO:0008031
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
ARHINIA, CHOANAL ATRESIA, AND MICROPHTHALMIA, 603457