| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Clefting disorders v1.128 | CECR2 | Zornitza Stark Marked gene: CECR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v1.128 | CECR2 | Zornitza Stark Gene: cecr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v1.128 | CECR2 | Zornitza Stark Classified gene: CECR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v1.128 | CECR2 | Zornitza Stark Gene: cecr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v1.127 | CECR2 |
Zornitza Stark gene: CECR2 was added gene: CECR2 was added to Clefting disorders. 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 Phenotypes for gene: CECR2 were set to Neurodevelopmental disorder, MONDO:0700092, CECR2-related Review for gene: CECR2 was set to AMBER Added comment: PMID 41964217 reports six individuals from six unrelated families with heterozygous CECR2 variants (three truncating loss‑of‑function and three missense) presenting with a neurodevelopmental disorder characterised by developmental delay, speech delay, growth restriction, microcephaly, intellectual disability and, in two individuals, cleft lip/palate. Sources: Literature |
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