TTC7A

tetratricopeptide repeat domain 7A
OMIM: 609332, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green TTC7A in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes TTC7A deficiency Epithelial Barrier Dysfunction Gastrointestinal defects and immunodeficiency syndrome 243150
Green TTC7A in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Radboud University Medical Center, Nijmegen Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150
Green TTC7A in COVID-19 research Level 2: Viral research Version 1.147	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 London North GLH NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Gastrointestinal defects and immunodeficiency syndrome, 243150 Immunodeficiencies with multiple intestinal atresias Combined immunodeficiency 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 Multiple intestinal atresia and severe combined immunodeficiency
Red TTC7A in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.30	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Phenotypes Gastrointestinal defects and immunodeficiency syndrome 243150
Green TTC7A in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.11 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150
Green TTC7A in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.99 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 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
Red TTC7A in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.14	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes anorectal malformation Gastrointestinal defects and immunodeficiency syndrome 243150 INTESTINAL ATRESIA, MULTIPLE
Green TTC7A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.186 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes INTESTINAL ATRESIA, MULTIPLE
Green TTC7A in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTESTINAL ATRESIA, MULTIPLE 243150
Red TTC7A in Intellectual disability Level 2: Developmental disorders Version 9.375 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Intestinal atresia, multiple, 243150
Green TTC7A in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Gastrointestinal defects and immunodeficiency syndrome, OMIM:243150