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  2. Hair disorders
  3. APCDD1
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Hair disorders

Gene: APCDD1

Green List (high evidence)
APCDD1 (APC down-regulated 1)
EnsemblGeneIds (GRCh38): ENSG00000154856
EnsemblGeneIds (GRCh37): ENSG00000154856
OMIM: 607479, Gene2Phenotype
APCDD1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Families appear unrelated.
Created: 30 Apr 2022, 7:19 a.m. | Last Modified: 30 Apr 2022, 7:19 a.m.
Panel Version: 0.13466

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 1, MIM#605389

Created: 30 Apr 2022, 7:19 a.m.
Last Modified: 30 Apr 2022, 7:19 a.m.
Panel version: Imported from Mendeliome panel version 0.13466

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Single path variant in ClinVar - missense p.Leu9Arg is absent in gnomAD, reported in three unrelated families (Pakistani, Italian, Chinese) with hypotrichosis. Affects a signal peptide.

No other reported variants, last publication of the recurring variant from 2012.
Created: 29 Apr 2022, 2:18 a.m. | Last Modified: 29 Apr 2022, 2:18 a.m.
Panel Version: 0.61

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hypotrichosis 1 MIM#605389

Publications

Created: 29 Apr 2022, 2:18 a.m.
Last Modified: 29 Apr 2022, 2:18 a.m.
Panel version: 0.61

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypotrichosis 1, 605389
OMIM
607479
Clinvar variants
Variants in APCDD1
Penetrance
None
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: APCDD1 was added gene: APCDD1 was added to Hair disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APCDD1 were set to Hypotrichosis 1, 605389