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  2. Anophthalmia_Microphthalmia_Coloboma
  3. PRR12
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Anophthalmia_Microphthalmia_Coloboma

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)

PMID 33314030: Four unrelated families reported with unilateral or bilateral microphthalmia +/- Peters anomaly. In addition, 3 unrelated families reported with more complex phenotype including ID in PMID 29556724.
Created: 28 Dec 2020, 9:23 p.m. | Last Modified: 28 Dec 2020, 9:23 p.m.
Panel Version: 0.191

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuroocular syndrome, MIM#619539; Complex microphthalmia

Publications

Created: 28 Dec 2020, 9:23 p.m.
Last Modified: 28 Dec 2020, 9:23 p.m.
Panel version: 1.7

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neuroocular syndrome, MIM#619539
  • Complex microphthalmia
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 Complex microphthalmia to Neuroocular syndrome, MIM#619539; Complex microphthalmia

28 Dec 2020, 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).

28 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRR12 were changed from to Complex microphthalmia

28 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRR12 were set to

28 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRR12 was added gene: PRR12 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRR12 was set to Unknown