Genomics England
GMS Panels
Panels
Genes and Entities

HOXA1

homeobox A1
OMIM: 142955
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BOSLEY-SALIH-ALORAINY SYNDROME 601536, ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME 601536
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BOSLEY-SALIH-ALORAINY SYNDROME, ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bosley-Salih-Alorainy syndrome, 601536Athabaskan brainstem dysgenesis syndrome, 601536, BOSLEY-SALIH-ALORAINY SYNDROME (BSAS)