Fetal anomalies
Gene: HOXC13

HOXC13 (homeobox C13)
EnsemblGeneIds (GRCh38): ENSG00000123364
EnsemblGeneIds (GRCh37): ENSG00000123364
OMIM: 142976, Gene2Phenotype
HOXC13 is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HOXC13 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.

DDG2P rating in original PAGE list: Confirmed for PURE HAIR AND NAIL ECTODERMAL DYSPLASIA
Created: 11 Dec 2018, 9:05 a.m.

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
PAGE DD-Gene2Phenotype

Phenotypes

PURE HAIR AND NAIL ECTODERMAL DYSPLASIA

OMIM

142976

Clinvar variants

Variants in HOXC13

Penetrance

None

Panels with this gene

History Filter Activity

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to HOXC13. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: HOXC13 was added gene: HOXC13 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HOXC13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXC13 were set to PURE HAIR AND NAIL ECTODERMAL DYSPLASIA

Fetal anomalies Gene: HOXC13