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  2. Anophthalmia_Microphthalmia_Coloboma
  3. FZD5
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Anophthalmia_Microphthalmia_Coloboma

Gene: FZD5

Green List (high evidence)
FZD5 (frizzled class receptor 5)
EnsemblGeneIds (GRCh38): ENSG00000163251
EnsemblGeneIds (GRCh37): ENSG00000163251
OMIM: 601723, Gene2Phenotype
FZD5 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Sources: Literature
Created: 28 Dec 2020, 7:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia/coloboma 11, MIM# 620731

Publications

Created: 28 Dec 2020, 7:48 a.m.

Panel version: 1.38

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microphthalmia/coloboma 11, MIM# 620731
OMIM
601723
Clinvar variants
Variants in FZD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FZD5 were changed from Coloboma (MONDO:0001476), FZD5-related to Microphthalmia/coloboma 11, MIM# 620731

18 Dec 2023, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: FZD5 were changed from Coloboma to Coloboma (MONDO:0001476), FZD5-related

28 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fzd5 has been classified as Green List (High Evidence).

28 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fzd5 has been classified as Green List (High Evidence).

28 Dec 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FZD5 was added gene: FZD5 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: FZD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZD5 were set to 32737437; 26908622 Phenotypes for gene: FZD5 were set to Coloboma Review for gene: FZD5 was set to GREEN