Genomics England
GMS Panels
Panels
Genes and Entities

SOX11

SRY-box 11
OMIM: 600898
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 615866
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 9, OMIM:615866
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 9, OMIM:615866
Green
in Paediatric disorders - additional genes
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, Coffin-Siris syndrome 9, 615866