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Gene: TTC37

TTC37 (tetratricopeptide repeat domain 37)
EnsemblGeneIds (GRCh38): ENSG00000198677
EnsemblGeneIds (GRCh37): ENSG00000198677
OMIM: 614589, Gene2Phenotype
TTC37 is in 17 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

HGNC approved symbol is SKIC3.

Characteristic features include intrauterine growth retardation, woolly hair, facial dysmorphism, intractable diarrhoea in infancy requiring total parenteral nutrition, and immunodepression. Over 20 families reported.

Onset usually in first month of life. Often fatal due in infancy due to intractable diarrhea (OMIM).
Created: 4 Feb 2025, 11:18 p.m. | Last Modified: 4 Feb 2025, 11:18 p.m.

Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Trichohepatoenteric syndrome 1 MIM#222470

Publications

Created: 4 Feb 2025, 11:18 p.m.
Last Modified: 4 Feb 2025, 11:18 p.m.
Panel version: 1.1456

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Mackenzie's Mission

Phenotypes

Trichohepatoenteric syndrome 1, 222470 (3)

OMIM

614589

Clinvar variants

Variants in TTC37

Penetrance

None

Panels with this gene

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Trichohepatoenteric syndrome 1, 222470 (3) for gene: TTC37

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTC37 was added gene: TTC37 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)

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