Ectodermal dysplasiaGene: KRT71
No further cases identified in the literature therefore KRT71 will retain Amber rating
Created: 3 Dec 2019, 11:05 a.m. | Last Modified: 3 Dec 2019, 11:05 a.m.
Panel Version: 0.33
This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:KRT71; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.
Panel Version: 0.21
Comment when marking as ready: Human KRT71 hypotrichosis mutations currently only reported in 1 family (PMID:22592156), therefore rating remains as red.
Created: 23 Jan 2017, 3:52 p.m.
PMID:22592156 (Fujimoto et al., 2012) identify heterozygosity for a c.422T-G transversion in KRT71 in 3 affected members of a Japenese family with HYPT13 (OMIM:615896).
Created: 23 Jan 2017, 3:49 p.m.
Good animal evidence but limited in humans (one family)
Created: 21 Jan 2017, 11:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
woolly hair; hypotrichosis
Source Expert Review Amber was added to KRT71. Mode of inheritance for gene KRT71 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: KRT71 was added gene: KRT71 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: KRT71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT71 were set to 22592156 Phenotypes for gene: KRT71 were set to hypotrichosis; ?Hypotrichosis 13, 615896; HYPT13; woolly hair