Genomics England
GMS Panels
Panels
Genes and Entities

HID1

HID1 domain containing
OMIM: 605752
PanelMode of inheritanceDetails
3 panels
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic infantile encephalopathy, Hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic infantile encephalopathy, Hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic infantile encephalopathy, Hypopituitarism, Developmental and epileptic encephalopathy 105 with hypopituitarism, OMIM:619983