Activity
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12 actions
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| Severe microcephaly v9.6 | MED17 | Ida Ertmanska Classified gene: MED17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.6 | MED17 | Ida Ertmanska Added comment: Comment on list classification: There are 4 unrelated families (Jewish families with potential founder variant counted as one) where individuals had progressive microcephaly and harboured biallelic MED17 variants. However, only the Jewish patients in PMID 20950787 met the severity criteria of HC more severe than -3SD or <0.4 percentile. Other cases were -2SD for age, and 'under 3rd percentile'. Hence, this gene can only be rated Amber until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.6 | MED17 | Ida Ertmanska Gene: med17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.5 | MED17 | Ida Ertmanska Publications for gene: MED17 were set to 20950787; 30345598; 26004231; 33756211 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v9.4 | MED17 | Ida Ertmanska reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: None; Publications: 20950787, 26004231, 30345598, 36508181; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.239 | MED17 | Ivone Leong Classified gene: MED17 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.239 | MED17 | Ivone Leong Added comment: Comment 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.239 | MED17 | Ivone Leong Gene: med17 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.238 | MED17 | Ivone Leong Tag watchlist tag was added to gene: MED17. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.238 | MED17 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.237 | MED17 | Ivone Leong Publications for gene: MED17 were set to 20950787; 30345598; 26004231 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.19 | MED17 |
Zornitza Stark 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 Added comment: 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 list |
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