| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mendeliome v2.125 | CTDSP2 |
chirag patel gene: CTDSP2 was added gene: CTDSP2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CTDSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTDSP2 were set to 39941065; 38731925 Phenotypes for gene: CTDSP2 were set to Craniofacial microsomia, MONDO:0015397 Review for gene: CTDSP2 was set to AMBER Added comment: PMID 38731925 reports 2 individuals from 2 unrelated families with the same de novo rare heterozygous missense variant in CTDSP2 (c.332C>A, p.T111N). They presented with hemifacial microsomia (unilateral facial hypoplasia, mandibular hypoplasia, ear malformations, and unilateral moderate-severe conductive hearing loss). PMID 39941065 reports the functional studies for the p.T111N variant. Zebrafish ctdsp2 knockout models exhibited craniofacial defects characterized by cartilage malformations and chondrocyte disorganization. In silico and in vivo experiments revealed the association of CTDSP2 with chondrogenic differentiation of neural crest cells as well as the TGF-β and p53 signaling pathways. Rescue by wild‑type ctdsp2 mRNA or tp53 knockout restores normal cartilage, providing strong functional support. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.111 | CDC27 |
Bryony Thompson gene: CDC27 was added gene: CDC27 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CDC27 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC27 were set to 38731925 Phenotypes for gene: CDC27 were set to craniofacial microsomia MONDO:0015397 Review for gene: CDC27 was set to GREEN Added comment: PMID 38731925 reports three individuals with de novo heterozygous variants (including missense and a stopgain) in CDC27 presenting with hemifacial microsomia – unilateral microtia, mandibular hypoplasia, facial asymmetry and conductive hearing loss with early‑childhood onset; zebrafish cdc27 knockout recapitulates the craniofacial phenotype and rescue experiments partially restore the defects. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v2.0 | MIF | Gene migrated from ENSG00000240972 to ENSG00000240972 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4767 | SCP2 | Zornitza Stark edited their review of gene: SCP2: Added comment: PMID 39941065 reports 2 individuals from 2 unrelated families with de novo heterozygous missense CTDSP2 (c.332C>A, p.T111N) variants presenting with hemifacial microsomia (unilateral facial hypoplasia, ear malformations, mandibular underdevelopment). Zebrafish ctdsp2 knockout recapitulates the craniofacial phenotype and rescue by wild‑type ctdsp2 mRNA or tp53 knockout restores normal cartilage, providing functional support.; Changed publications: 26497993, 39941065; Changed phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724, Craniofacial microsomia, MONDO:0015397, SCP2-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14501 | MIF | Zornitza Stark Marked gene: MIF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14501 | MIF | Zornitza Stark Gene: mif has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14501 | MIF | Zornitza Stark Mode of inheritance for gene: MIF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14500 | MIF | Zornitza Stark Phenotypes for gene: MIF were changed from to {Rheumatoid arthritis, systemic juvenile, susceptibility to}, MIM# 604302 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14499 | MIF | Zornitza Stark Classified gene: MIF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14499 | MIF | Zornitza Stark Gene: mif has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.14498 | MIF | Zornitza Stark reviewed gene: MIF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, systemic juvenile, susceptibility to}, MIM# 604302; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3119 | NEXMIF | Zornitza Stark Marked gene: NEXMIF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3119 | NEXMIF | Zornitza Stark Gene: nexmif has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3119 | NEXMIF | Zornitza Stark Phenotypes for gene: NEXMIF were changed from to Mental retardation, X-linked 98 300912 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3118 | NEXMIF | Zornitza Stark Publications for gene: NEXMIF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3117 | NEXMIF | Zornitza Stark Mode of inheritance for gene: NEXMIF was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.3111 | NEXMIF | Elena Savva reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27358180; Phenotypes: Mental retardation, X-linked 98 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | NEXMIF |
Zornitza Stark gene: NEXMIF was added gene: NEXMIF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NEXMIF was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | MIF |
Zornitza Stark gene: MIF was added gene: MIF was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MIF was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||