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  3. PORCN
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Congenital diaphragmatic hernia

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)

Comment when marking as ready: XLD.
Created: 14 Nov 2020, 6:33 a.m. | Last Modified: 14 Nov 2020, 6:33 a.m.
Panel Version: 0.29
CDH has been reported as a rare feature.
Created: 14 Nov 2020, 6:32 a.m. | Last Modified: 14 Nov 2020, 6:32 a.m.
Panel Version: 0.26

Mode of inheritance
Other

Phenotypes
Focal dermal hypoplasia, MIM# 305600

Publications

Created: 14 Nov 2020, 6:32 a.m.
Last Modified: 14 Nov 2020, 6:32 a.m.
Panel version: 0.26

History Filter Activity

14 Nov 2020, 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).

14 Nov 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PORCN were changed from to Focal dermal hypoplasia, MIM# 305600

14 Nov 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PORCN were set to

14 Nov 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PORCN was changed from Unknown to Other

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PORCN was added gene: PORCN was added to Congenital diaphragmatic hernia, CDH_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PORCN was set to Unknown