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  2. Anophthalmia_Microphthalmia_Coloboma
  3. PUF60
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Anophthalmia_Microphthalmia_Coloboma

Gene: PUF60

Green List (high evidence)
PUF60 (poly(U) binding splicing factor 60)
EnsemblGeneIds (GRCh38): ENSG00000179950
EnsemblGeneIds (GRCh37): ENSG00000179950
OMIM: 604819, Gene2Phenotype
PUF60 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Coloboma is part of the phenotype.
Sources: Expert list
Created: 24 Dec 2019, 12:09 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Verheij syndrome, MIM#615583

Created: 24 Dec 2019, 12:09 a.m.

Panel version: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Verheij syndrome, MIM#615583
OMIM
604819
Clinvar variants
Variants in PUF60
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: puf60 has been classified as Green List (High Evidence).

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: puf60 has been classified as Green List (High Evidence).

24 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PUF60 was added gene: PUF60 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PUF60 were set to Verheij syndrome, MIM#615583 Review for gene: PUF60 was set to GREEN