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| Mendeliome v2.496 | MSX2 upstream regulatory region | Sarah Milton Marked Region: MSX2 upstream regulatory region as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.496 | MSX2 upstream regulatory region | Sarah Milton Region: msx2 upstream regulatory region has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.496 | MSX2 upstream regulatory region | Sarah Milton Classified Region: MSX2 upstream regulatory region as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.496 | MSX2 upstream regulatory region | Sarah Milton Region: msx2 upstream regulatory region has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.495 | MSX2 upstream regulatory region |
Sarah Milton Region: MSX2 upstream regulatory region was added Region: MSX2 upstream regulatory region was added to Mendeliome. Sources: Literature regulatory region tags were added to Region: MSX2 upstream regulatory region. Mode of inheritance for Region: MSX2 upstream regulatory region was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: MSX2 upstream regulatory region were set to 22717651; 42609732 Phenotypes for Region: MSX2 upstream regulatory region were set to Parietal foramina 1 MIM#168500; Parietal foramina with cleidocranial dysplasia MIM#168550 Review for Region: MSX2 upstream regulatory region was set to AMBER Added comment: MSX2 encodes a homeobox transcription factor that is known to have a role in osteogenic growth. Sequence variants in MSX2 result in Craniosynostosis 2, MIM#604757, Parietal foramina 1 MIM#168500. PMID: 22717651 summarises 2 unrelated individuals with duplications approx 10-70kb upstream of MSX2 presenting with cleidocranial dysplasia. Mechanism of disease postulated to be overexpression of MSX2, authors report enhancers were underlying some of the duplicated region. PMID: 42609732 summarised 3 individuals from 2 unrelated families with parietal foramina with microduplications upstream of MSX2. Mechanism remains somewhat undefined with rare reports. Note: minimum duplicated region has been used for this entry Sources: Literature |
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| Mendeliome v2.0 | MSX2 | Gene migrated from ENSG00000120149 to ENSG00000120149 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4545 | ZNF124 |
Zornitza Stark gene: ZNF124 was added gene: ZNF124 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZNF124 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF124 were set to 41708596 Phenotypes for gene: ZNF124 were set to Retinitis pigmentosa, MONDO:0019200, ZNF124-related Review for gene: ZNF124 was set to RED Added comment: PMID 41708596 report 2 individuals from a consanguineous family with retinitis pigmentosa and a homozygous splice‑site loss‑of‑function variant c.219‑1delG in ZNF124. The variant co‑segregates with disease and mouse retina‑specific knockout recapitulates the retinal degeneration phenotype through loss of ZNF124‑mediated activation of MSX2. Sources: Literature |
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| Mendeliome v0.9939 | MSX2 | Zornitza Stark Marked gene: MSX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9939 | MSX2 | Zornitza Stark Gene: msx2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9939 | MSX2 | Zornitza Stark Phenotypes for gene: MSX2 were changed from to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9938 | MSX2 | Zornitza Stark Publications for gene: MSX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9937 | MSX2 | Zornitza Stark Mode of inheritance for gene: MSX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.9929 | MSX2 | Daniel Flanagan reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | MSX2 |
Zornitza Stark gene: MSX2 was added gene: MSX2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MSX2 was set to Unknown |
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