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  2. Anophthalmia_Microphthalmia_Coloboma
  3. PORCN
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Anophthalmia_Microphthalmia_Coloboma

Gene: PORCN

Green List (high evidence)
PORCN (porcupine O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Anophthalmia, microphthalmia and coloboma are part of the phenotype of this XLD condition.
Sources: Expert list
Created: 24 Dec 2019, 12:07 a.m.

Mode of inheritance
Other

Phenotypes
Focal dermal hypoplasia, MIM#305600

Created: 24 Dec 2019, 12:07 a.m.

Panel version: 0.20

History Filter Activity

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: porcn 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: porcn 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: PORCN was added gene: PORCN was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list Mode of inheritance for gene: PORCN was set to Other Phenotypes for gene: PORCN were set to Focal dermal hypoplasia, MIM#305600 Review for gene: PORCN was set to GREEN