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Fetal anomalies

Gene: ZFPM2

Green List (high evidence)

ZFPM2 (zinc finger protein, FOG family member 2)
EnsemblGeneIds (GRCh38): ENSG00000169946
EnsemblGeneIds (GRCh37): ENSG00000169946
OMIM: 603693, Gene2Phenotype
ZFPM2 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

NB association with DSD is REFUTED.
Created: 2 Dec 2021, 6:24 a.m. | Last Modified: 2 Dec 2021, 6:24 a.m.
Panel Version: 0.902

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Associated with congenital diaphragmatic hernia, congenital heart disease and sex reversal.
Sources: Expert list, Literature
Created: 2 Dec 2021, 4:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert list
Phenotypes
  • Diaphragmatic hernia 3 - MIM#610187
  • Tetralogy of Fallot - MIM# 187500
OMIM
603693
Clinvar variants
Variants in ZFPM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZFPM2 were changed from 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500 to Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500

2 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfpm2 has been classified as Green List (High Evidence).

2 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zfpm2 has been classified as Green List (High Evidence).

2 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: ZFPM2 was added gene: ZFPM2 was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFPM2 were set to 16103912; 17568391; 24702427; 10892744; 21919901; 14517948 Phenotypes for gene: ZFPM2 were set to 46XY sex reversal 9 - MIM# 616067; Diaphragmatic hernia 3 - MIM#610187; Tetralogy of Fallot - MIM# 187500 Review for gene: ZFPM2 was set to GREEN