Genomics England
GMS Panels
Panels
Genes and Entities

ZNF462

zinc finger protein 462
OMIM: 617371
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
Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Weiss-Kruszka syndrome, OMIM:618619, Craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
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, imprinted status unknown
Phenotypes
Prominent metopic ridge, Ptosis, Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior, Intellectual disability, Global developmental delay, Craniosynostosis, Autistic behavior
Green
in Rare syndromic craniosynostosis or isolated multisuture synostosis
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Weiss-Kruszka syndrome, OMIM:618619, weiss-kruszka syndrome, MONDO:0032836