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  3. ZIC2
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Fetal anomalies

Gene: ZIC2

Green List (high evidence)
ZIC2 (Zic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000043355
EnsemblGeneIds (GRCh37): ENSG00000043355
OMIM: 603073, Gene2Phenotype
ZIC2 is in 13 panels

2 reviews

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

>10 unrelated individuals reported in literature with congenital holoprosencephaly spectrum of disorders. Most reported variants de novo but some inherited variants. Incomplete penetrance reported. Likely to be detected on antenatal US
Created: 16 Dec 2021, 4:11 a.m. | Last Modified: 16 Dec 2021, 4:11 a.m.
Panel Version: 0.1372

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holoprosencephaly 5, OMIM #609637

Publications

Created: 16 Dec 2021, 4:11 a.m.
Last Modified: 16 Dec 2021, 4:11 a.m.
Panel version: 0.1372

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 24 Apr 2021, 9 a.m. | Last Modified: 24 Apr 2021, 9 a.m.
Panel Version: 0.78

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 5, MIM# 609637

Publications

Created: 24 Apr 2021, 9 a.m.
Last Modified: 24 Apr 2021, 9 a.m.
Panel version: Imported from Holoprosencephaly and septo-optic dysplasia panel version 0.78

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Holoprosencephaly 5, OMIM #609637
  • MONDO:0012322
OMIM
603073
Clinvar variants
Variants in ZIC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zic2 has been classified as Green List (High Evidence).

16 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637; MONDO:0012322 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322

16 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5, OMIM #609637 to Holoprosencephaly 5, OMIM #609637; MONDO:0012322

16 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZIC2 were set to 20531442

16 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZIC2 were changed from HOLOPROSENCEPHALY to Holoprosencephaly 5, OMIM #609637

16 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZIC2 were set to

16 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZIC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZIC2 was added gene: ZIC2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZIC2 were set to HOLOPROSENCEPHALY