Non-syndromic familial congenital anorectal malformations

Gene: TTC7A

Red List (low evidence)

TTC7A (tetratricopeptide repeat domain 7A)
EnsemblGeneIds (GRCh38): ENSG00000068724
EnsemblGeneIds (GRCh37): ENSG00000068724
OMIM: 609332, Gene2Phenotype
TTC7A is in 8 panels

2 reviews

Charles Shaw-Smith (Royal Devon and Exeter NHS Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Multiple gastro-intestinal atresias

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rating as red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Created: 1 Nov 2018, 3:01 p.m.
Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Created: 24 Oct 2018, 10:18 a.m.
Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Created: 23 Oct 2018, 10:30 a.m.
TTC7A is associated with Gastrointestinal defects and immunodeficiency syndrome in OMIM and INTESTINAL ATRESIA, MULTIPLE (confirmed) in Gene2Phenotype. Numerous cases of patients TTC7A and gastrointestinal defects and immunodeficiency syndrome have been reported (PMID: 23423984;24292712;23830146;25174867;25174867).
Created: 16 Oct 2018, 9:26 a.m.
Comment on list classification: Rated gene Amber as is on expert list.
Created: 19 Sep 2018, 4:23 p.m.
Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Created: 19 Sep 2018, 4:22 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • anorectal malformation
  • Gastrointestinal defects and immunodeficiency syndrome 243150
  • INTESTINAL ATRESIA, MULTIPLE
OMIM
609332
Clinvar variants
Variants in TTC7A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Gene added from expert list fr

1 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ttc7a has been classified as Red List (Low Evidence).

16 Oct 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal

16 Oct 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TTC7A were changed from anorectal malformation to anorectal malformation; Gastrointestinal defects and immunodeficiency syndrome 243150; INTESTINAL ATRESIA, MULTIPLE

16 Oct 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TTC7A were set to

19 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ttc7a has been classified as Amber List (Moderate Evidence).

19 Sep 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes anorectal malformation for gene: TTC7A

19 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TTC7A was added gene: TTC7A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: TTC7A was set to Phenotypes for gene: TTC7A were set to anorectal malformation