Genomics England
GMS Panels
Panels
Genes and Entities

B9D1

B9 domain containing 1
OMIM: 614144
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MECKEL SYNDROME 9 614209
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 9, OMIM:614209, Meckel syndrome 9, MONDO:0013630, Joubert syndrome 27, OMIM:617120, Joubert syndrome 27, MONDO:0014927