Genomics England
GMS Panels
Panels
Genes and Entities

FAM149B1

family with sequence similarity 149 member B1
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.48
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy-related syndromic intellectual disability
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.80
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 36, OMIM:618763
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 36, OMIM:618763
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 36, OMIM:618763
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 36, OMIM:618763