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Intellectual disability syndromic and non-syndromic

Gene: PARN

Green List (high evidence)

PARN (poly(A)-specific ribonuclease)
EnsemblGeneIds (GRCh38): ENSG00000140694
EnsemblGeneIds (GRCh37): ENSG00000140694
OMIM: 604212, Gene2Phenotype
PARN is in 7 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Multiple families reported with both mono-allelic and bi-allelic disease.

Autosomal recessive dyskeratosis congenita-6 (DKCB6) is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay.
Created: 8 Sep 2024, 1:51 a.m. | Last Modified: 8 Sep 2024, 1:51 a.m.
Panel Version: 0.6188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 6, MIM# 616353

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 6, MIM# 616353
OMIM
604212
Clinvar variants
Variants in PARN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Nov 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Nov 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353

15 Nov 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PARN were set to

15 Nov 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PARN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PARN was added gene: PARN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PARN was set to Unknown