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Intellectual disability syndromic and non-syndromic

Gene: PRR12

Green List (high evidence)

PRR12 (proline rich 12)
EnsemblGeneIds (GRCh38): ENSG00000126464
EnsemblGeneIds (GRCh37): ENSG00000126464
OMIM: 616633, Gene2Phenotype
PRR12 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Three unrelated individuals reported with de novo LoF variants; in addition, another individual with translocation disrupting gene.
Sources: Literature
Created: 9 Dec 2019, 1:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuroocular syndrome, MIM#619539; Intellectual disability; Iris abnormalities; Complex microphthalmia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuroocular syndrome, MIM#619539
  • Intellectual disability
  • Iris abnormalities
  • Complex microphthalmia
Transcripts
  • intellectual disability
  • iris abnormalities
OMIM
616633
Clinvar variants
Variants in PRR12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRR12 were changed from intellectual disability; iris abnormalities to Neuroocular syndrome, MIM#619539; Intellectual disability; Iris abnormalities; Complex microphthalmia

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prr12 has been classified as Green List (High Evidence).

9 Dec 2019, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRR12 were changed from to intellectual disability; iris abnormalities

9 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prr12 has been classified as Green List (High Evidence).

9 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRR12 was added gene: PRR12 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRR12 were set to 29556724 Review for gene: PRR12 was set to GREEN