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Hair disorders

Gene: PADI3

Green List (high evidence)
PADI3 (peptidyl arginine deiminase 3)
EnsemblGeneIds (GRCh38): ENSG00000142619
EnsemblGeneIds (GRCh37): ENSG00000142619
OMIM: 606755, Gene2Phenotype
PADI3 is in 2 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Uncombable hair syndrome is a rare anomaly of the hair shaft that occurs in children and improves with age (associated with biallelic variants, at least 3 unrelated families reported).

PMID: 30763140 Malki et al 2019 NEJM - report heterozygous variants in women of African ancestry with central centrifugal cicatricial alopecia (CCCA), often but not exclusively triggered by hair-grooming habits
Created: 30 Mar 2022, 12:05 a.m. | Last Modified: 30 Mar 2022, 12:05 a.m.
Panel Version: 0.12284

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Uncombable hair syndrome - MIM#191480

Publications

Created: 30 Mar 2022, 12:05 a.m.
Last Modified: 30 Mar 2022, 12:05 a.m.
Panel version: Imported from Mendeliome panel version 0.12284

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Uncombable hair syndrome, 191480
OMIM
606755
Clinvar variants
Variants in PADI3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PADI3 was added gene: PADI3 was added to Hair disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: PADI3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PADI3 were set to 31332722 Phenotypes for gene: PADI3 were set to Uncombable hair syndrome, 191480