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| Cerebellar and Pontocerebellar Hypoplasia v0.124 | LARGE1 | Zornitza Stark Marked gene: LARGE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.124 | LARGE1 | Zornitza Stark Gene: large1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.124 | LARGE1 | Zornitza Stark Publications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.123 | LARGE1 | Zornitza Stark Classified gene: LARGE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.123 | LARGE1 | Zornitza Stark Gene: large1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.122 | LARGE1 | Zornitza Stark Tag SV/CNV tag was added to gene: LARGE1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebellar and Pontocerebellar Hypoplasia v0.113 | LARGE1 |
Elena Savva gene: LARGE1 was added gene: LARGE1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Expert list Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LARGE1 were set to PMID: 17878207; 19067344; PMID: 24709677 Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840; Walker Warburg syndrome Added comment: Gross deletions and rearrangements are commonly reported for this gene (PMID: 24709677) PMID: 17878207 - single reported patient with WWS had cerebellar hypoplasia, died in infancy. Patient had a heterozygous PTC. PMID: 19067344 - 2 chet patients (missense/PTC) had congenital muscular dystrophy. Patients were both reported with hypoplastic pontine abnormality, one also had a dysplastic vermis. A third patient is reported but this is the same as ^. PMID: 24709677 - 4 patients. 1/4 mild pontine hyoplasia and inferior vermis hypoplasia, 1/4 very small pons, hypoplastic brainstem and cerebellar cysts, 1/4 small pons, 1/4 hypoplastic pons. 3/4 were diagnosed with WWS, 1/4 with Fukuyama Congenital Muscular Dystrophy Sources: Expert list |
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