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  3. POLD1
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Deafness_IsolatedAndComplex

Gene: POLD1

Green List (high evidence)
POLD1 (DNA polymerase delta 1, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000062822
EnsemblGeneIds (GRCh37): ENSG00000062822
OMIM: 174761, Gene2Phenotype
POLD1 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Established gene-disease association for mono-allelic variants with syndromic condition MIM#615381, which has deafness as a feature. Recent report of 5 individuals from a single family segregating bi-allelic variants in this gene and non-syndromic deafness. Please note association with non-syndromic deafness does not currently meet evidence threshold for Green rating.
Sources: Literature
Created: 20 Apr 2020, 2:15 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Non-syndromic deafness

Created: 20 Apr 2020, 2:15 a.m.

Panel version: 0.339

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381
  • Non-syndromic deafness
OMIM
174761
Clinvar variants
Variants in POLD1
Penetrance
None
Panels with this gene

History Filter Activity

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pold1 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POLD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pold1 has been classified as Green List (High Evidence).

20 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLD1 was added gene: POLD1 was added to Deafness. Sources: Literature Mode of inheritance for gene: POLD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM#615381; Non-syndromic deafness Review for gene: POLD1 was set to GREEN