Differences of Sex Development
Gene: ZFPM2

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)

Red List (low evidence)

Population frequencies of variants are out of keeping for a monogenic disorder.
Created: 8 Jul 2020, 7:31 a.m. | Last Modified: 8 Jul 2020, 7:31 a.m.

Panel Version: 0.38

Created: 8 Jul 2020, 7:31 a.m.
Last Modified: 8 Jul 2020, 7:31 a.m.
Panel version: 0.38

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Limited evidence supporting gene disease association. Newest publication in 2020 demonstrates benign contribution of this gene to the phenotype. Amber/Red

PMID: 24549039: 2 probands reported. 1 proband found to have a het missense (present in gnomad; 9 hets) and a homozygous missense (present in gnomad; 933 hets and 4 hom).

PMID: 27899157: 10 patients reported. However most of the variants present at unexpected frequencies in gnomAD (eg. D98Asn ; 725 hets and 5 hom)

PMID: 31962012: Performed functional evaluation and recuration on variants identified in PMID: 27899157. Variants now shown to be not causative.

PMID: 12223418: Mouse model showing abnormalities in gonadogenesis
Created: 8 Jul 2020, 5:42 a.m. | Last Modified: 8 Jul 2020, 5:42 a.m.

Panel Version: 0.34

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

Phenotypes
46XY sex reversal 9 (MIM#616067)

Publications

Created: 8 Jul 2020, 5:42 a.m.
Last Modified: 8 Jul 2020, 5:42 a.m.
Panel version: 0.34

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

46XY sex reversal 9 (MIM#616067)

Tags

refuted

OMIM

603693

Clinvar variants

Variants in ZFPM2

Penetrance

None

Publications

Panels with this gene