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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, CFSMR, Cleft palate
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME 213980
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 614132, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME
R-numbers: R100
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MR syndrome, Cerebrofaciothoracic dysplasia/ craniofacial dysmorphism, skeletal anomalies, Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980, Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome 213980