CAKUT
Gene: HOXA13Comment on list classification: New gene added by expert reviewer. Based on the review and available literature there is enough evidence to support a gene-disease association. Therefore, this gene has been given a Green status.Created: 11 May 2020, 12:32 p.m. | Last Modified: 11 May 2020, 12:32 p.m.
Panel Version: 1.104
CAKUT is a feature of this condition, variable severity.
Sources: Expert listCreated: 16 Jan 2020, 4:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hand-foot-uterus syndrome, MIM# 140000
Variants in this GENE are reported as part of current diagnostic practice
Gene: hoxa13 has been classified as Green List (High Evidence).
Publications for gene: HOXA13 were set to
Phenotypes for gene: HOXA13 were changed from Hand-foot-uterus syndrome, MIM# 140000 to Hand-foot-uterus syndrome, 140000
gene: HOXA13 was added gene: HOXA13 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: HOXA13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HOXA13 were set to Hand-foot-uterus syndrome, MIM# 140000 Review for gene: HOXA13 was set to GREEN gene: HOXA13 was marked as current diagnostic