Genomics England
GMS Panels
Panels
Genes and Entities

SOX6

SRY-box 6
OMIM: 607257
PanelMode of inheritanceDetails
4 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
SOX6-related neurodevelopmental syndrome
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Tolchin-Le Caignec syndrome, OMIM:618971, Tolchin-Le Caignec syndrome, MONDO:0033544
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
intellectual diability, ADHD, Craniosynostosis, Osteochondromas
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tolchin-Le Caignec syndrome, OMIM:618971, craniosynostosis