TMCO1

transmembrane and coiled-coil domains 1
OMIM: 614123
PanelMode of inheritanceDetails
6 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, CFSMR, Cleft palate
R-numbers: R100
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MR syndrome, Cerebrofaciothoracic dysplasia/ craniofacial dysmorphism, skeletal anomalies, Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980, Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980