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| Mendeliome v2.0 | VANGL2 | Gene migrated from ENSG00000162738 to ENSG00000162738 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4913 | CECR2 |
Lucy Spencer gene: CECR2 was added gene: CECR2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CECR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CECR2 were set to 41964217; 37424722 Phenotypes for gene: CECR2 were set to Neurodevelopmental disorder, MONDO:0700092, CECR2-related; neural tube defects, susceptibility to MONDO:0020705, CECR2-related Review for gene: CECR2 was set to GREEN Added comment: PMID 41964217 reports six individuals from six unrelated families with heterozygous nonsense, frameshift or missense CECR2 variants causing a neurodevelopmental disorder characterized by developmental and speech delay, growth restriction, microcephaly/small head circumference, intellectual disability and variable congenital anomalies. Other common features included gastrointestinal dysmotility, abnormal brain morphology, cardiac anomalies, ophthalmologic anomalies, and seizures/epilepsy in 3 patients. Two variants were confirmed de novo (1 missense 1 nonsense), inheritance information was no available for the other 4. All variant were either absent from gnomad v4 or had only 1 het. all missense were towards the end of the protein p.1385-1428. PMID 37424722 9 CECR2 variants in 12 patients with neural tube defects. All variants were missense from p. 327-1023 and 5 of them had over 11 hets in gnomad. Phenotypes included anencephaly, hydrocephalus, spina bifida, atelectasis, visceral congestion and more. The paper mentions a mouse model has previous shown LOF of CECR2 results in NTDs and that high homocysteine levels could further reduce CECR2 expression. Functional analysis on 4 missense in this cohort showed reduced CECR2 protein expression on western blot for 3, exposure to homocysteine thiolactone further reduced this expression in increase apoptosis activity while folic acid supplementation counteracted CECR2 expression decline and reduced apoptosis. No inheritance information was available for these variants. Green for the neurodevelopmental disorder, amber/red for neural tube defects similar to other genes with this association ie VANGL2. Sources: Literature |
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| Mendeliome v0.11575 | VANGL2 | Zornitza Stark Marked gene: VANGL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11575 | VANGL2 | Zornitza Stark Gene: vangl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11575 | VANGL2 | Zornitza Stark Phenotypes for gene: VANGL2 were changed from to Neural tube defects, MIM# 182940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11574 | VANGL2 | Zornitza Stark Publications for gene: VANGL2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11573 | VANGL2 | Zornitza Stark Mode of inheritance for gene: VANGL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11572 | VANGL2 | Zornitza Stark Classified gene: VANGL2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11572 | VANGL2 | Zornitza Stark Gene: vangl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.11571 | VANGL2 | Zornitza Stark reviewed gene: VANGL2: Rating: RED; Mode of pathogenicity: None; Publications: 20558380, 20738329, 34842271; Phenotypes: Neural tube defects, MIM# 182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10953 | FUZ |
Ain Roesley gene: FUZ was added gene: FUZ was added to Mendeliome. Sources: Literature Mode of inheritance for gene: FUZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FUZ were set to 21840926 Phenotypes for gene: FUZ were set to {Neural tube defects, susceptibility to} MIM#182940 Penetrance for gene: FUZ were set to unknown Review for gene: FUZ was set to RED gene: FUZ was marked as current diagnostic Added comment: Spina bifida cohort. Negative for VANGL1 and VANGL2, only FUZ was sequenced. Variants identified in 5 individuals. Arg404Gln (39 hets in gnomAD) and Asp354Tyr (6 hets in gnomAD). These variants are listed as risk factor in ClinVar Pro39Ser (absent in gnomAD) was de novo by parental sanger and showed reduced cell mobility on scratch assays. 2 other variants Gly140Glu and Ser142Thr were deemed non-causative due to poor in silicos and conservation Finally, hom KO mouse models were done to prove neural tube defects Sources: Literature |
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| Mendeliome v0.0 | VANGL2 |
Zornitza Stark gene: VANGL2 was added gene: VANGL2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: VANGL2 was set to Unknown |
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