Genomics England
GMS Panels
Panels
Genes and Entities

TTC7A

tetratricopeptide repeat domain 7A
OMIM: 609332
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INTESTINAL ATRESIA, MULTIPLE 243150
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INTESTINAL ATRESIA, MULTIPLE
Green
in Intestinal failure or congenital diarrhoea
R-numbers: R331
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
Green
in Paediatric pseudo-obstruction syndrome
R-numbers: R438
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gastrointestinal defects and immunodeficiency syndrome, 243150, Multiple intestinal atresia and severe combined immunodeficiency, Combined immunodeficiency, Immunodeficiencies with multiple intestinal atresias, Combined immunodeficiency-enteropathy spectrum, Bacterial (sepsis), fungal, viral infections, multiple intestinal atresias, often with intrauterine polyhydramnios and early demise, some with SCID phenotype, Combined immunodeficiencies with associated or syndromic features