Genomics England

tetratricopeptide repeat domain 7A

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes INTESTINAL ATRESIA, MULTIPLE 243150
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	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 6.12	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