Genomics England
GMS Panels
Panels
Genes and Entities

FAM149B1

family with sequence similarity 149 member B1
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy-related syndromic intellectual disability
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 36, OMIM:618763