Genomics England
GMS Panels
Panels
Genes and Entities

TBCE

tubulin folding cofactor E
OMIM: 604934
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, OMIM:241410
Green
in Familial hypoparathyroidism
R-numbers: R153
Signed-off version 2.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypoparathyroidism-retardation-dysmorphism syndrome, 241410, Caffey syndrome, type 1, 244460
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, KENNY-CAFFEY SYNDROME TYPE 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kenny-Caffey syndrome-1, 244460Hypoparathyroidism-retardation-dysmorphism syndrome, 241410, KENNY-CAFFEY SYNDROME TYPE 1 (KCS1)
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kenny-Caffey syndrome, type 1 244460., Hypoparathyroidism-retardation-dysmorphism syndrome 241410, Kenny-Caffey syndrome, type 1 244460