Genomics England
GMS Panels
Panels
Genes and Entities

TBC1D32

TBC1 domain family member 32
OMIM: 615867
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TBC1D32-related ciliopathy
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OFD IX
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome, MONDO:0015375
Green
in Malformations of cortical development
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome, MONDO:0015375
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome, MONDO:0015375
Green
in Pituitary hormone deficiency
R-numbers: R159
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic Hypopituitarism, orofaciodigital syndrome