Severe microcephaly
Gene: MED17Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. This gene as been given an Amber rating as 2 out of 3 cases (PMID:20950787 is caused by founder effect) have severe microcephaly. Until further evidence is available this gene will remain as Amber.Created: 20 Sep 2021, 1:04 p.m. | Last Modified: 20 Sep 2021, 1:04 p.m.
Panel Version: 2.239
Five individuals from four families reported initially, founder effect for p.Leu371Pro. Two additional families reported since with different variants, one family with milder phenotype.
Sources: Expert listCreated: 31 Aug 2020, 6:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: med17 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: MED17.
Phenotypes for gene: MED17 were changed from Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668 to Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668
Publications for gene: MED17 were set to 20950787; 30345598; 26004231
gene: MED17 was added gene: MED17 was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED17 were set to 20950787; 30345598; 26004231 Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM# 613668 Review for gene: MED17 was set to GREEN gene: MED17 was marked as current diagnostic