Skeletal Dysplasia_Fetal
Gene: MNX1EnsemblGeneIds (GRCh38): ENSG00000130675
EnsemblGeneIds (GRCh37): ENSG00000130675
OMIM: 142994, Gene2Phenotype
MNX1 is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Sacral agenesis and associated abnormalities can be evident on antenatal ultrasound.
Sources: Expert ReviewCreated: 16 Sep 2022, 7:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Currarino syndrome, MIM# 176450
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Currarino syndrome, MIM# 176450
- OMIM
- 142994
- Clinvar variants
- Variants in MNX1
- 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: mnx1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mnx1 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: MNX1 was added gene: MNX1 was added to Skeletal Dysplasia_Fetal. Sources: Expert Review Mode of inheritance for gene: MNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MNX1 were set to 32571425; 33836786; 11528505 Phenotypes for gene: MNX1 were set to Currarino syndrome, MIM# 176450 Review for gene: MNX1 was set to GREEN