Congenital diaphragmatic hernia
Gene: ZFPM2EnsemblGeneIds (GRCh38): ENSG00000169946
EnsemblGeneIds (GRCh37): ENSG00000169946
OMIM: 603693, Gene2Phenotype
ZFPM2 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 5 unrelated families reported with variants in this gene and CDH. Note variants in this gene are also linked to CHD and sex reversal.
Sources: Expert listCreated: 14 Nov 2020, 3:43 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diaphragmatic hernia 3, MIM# 610187
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Diaphragmatic hernia 3, MIM# 610187
- OMIM
- 603693
- Clinvar variants
- Variants in ZFPM2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zfpm2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zfpm2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ZFPM2 was added gene: ZFPM2 was added to Congenital diaphragmatic hernia. Sources: Expert list 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 Phenotypes for gene: ZFPM2 were set to Diaphragmatic hernia 3, MIM# 610187 Review for gene: ZFPM2 was set to GREEN