| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cerebellar and Pontocerebellar Hypoplasia v0.40 | TMEM5 | Zornitza Stark Marked gene: TMEM5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.40 | TMEM5 | Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.40 | TMEM5 | Zornitza Stark Classified gene: TMEM5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.40 | TMEM5 | Zornitza Stark Gene: tmem5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.32 | TMEM5 |
Crystle Lee gene: TMEM5 was added gene: TMEM5 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert Review Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM5 were set to 23217329 Phenotypes for gene: TMEM5 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 (MIM#615041) Review for gene: TMEM5 was set to GREEN Added comment: Associated with cerebellar dysplasia. This gene is also known as RXYLT1 PMID: 23217329; Vuillaumier-Barrot 2012: Reported hom variants in 5 families with cobblestone lissencephaly. PMID: 27212206; Guja Astrea 2016; Reported one patient with dysplastic cerebellar cortex, and small subcortical cerebellar cysts. Hypoplasia of the pons with a ventral cleft and a dilated and dysmorphic fourth ventricle. Sources: Expert Review |
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