Skeletal Dysplasia_Fetal
Gene: MATN3EnsemblGeneIds (GRCh38): ENSG00000132031
EnsemblGeneIds (GRCh37): ENSG00000132031
OMIM: 602109, Gene2Phenotype
MATN3 is in 5 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Fetal anomalies panel review: perinatal onset of the more severe SEMD phenotype.
Sources: LiteratureCreated: 10 Nov 2022, 1:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728
- OMIM
- 602109
- Clinvar variants
- Variants in MATN3
- 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: matn3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: matn3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: MATN3 was added gene: MATN3 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: MATN3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MATN3 were set to 31724101; 32025536; 11968079; 14729835 Phenotypes for gene: MATN3 were set to Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, MIM# 608728 Review for gene: MATN3 was set to GREEN