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| Rare multisystem ciliopathy disorders v1.146 | LAMA1 | Arina Puzriakova Publications for gene: LAMA1 were set to 25105227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.142 | LAMA1 |
John Sayer commented on gene: LAMA1: PMID: 34423300 PMCID: PMC8374969 DOI: 10.1093/braincomms/fcab163 These patients with LAMA1 may be misdiagnosed as Joubert Syndrome |
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| Rare multisystem ciliopathy disorders v1.142 | LAMA1 |
John Sayer commented on gene: LAMA1: PMID: 34423300 PMCID: PMC8374969 DOI: 10.1093/braincomms/fcab163 These patients with LAMA1 may be misdiagnosed as Joubert Syndrome |
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| Rare multisystem ciliopathy disorders v1.142 | LAMA1 | Sarah Leigh reviewed gene: LAMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.142 | LAMA1 | Sarah Leigh Phenotypes for gene: LAMA1 were changed from cerebellar cysts; myopia; cerebellar vermis hypoplasia; gaze palsy; retinitis pigments to Poretti-Boltshauser syndrome OMIM:615960; ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.141 | LAMA1 | Sarah Leigh Publications for gene: LAMA1 were set to https://www.ncbi.nlm.nih.gov/pubmed/25105227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.140 | LAMA1 | Sarah Leigh Classified gene: LAMA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.140 | LAMA1 | Sarah Leigh Gene: lama1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare multisystem ciliopathy disorders v1.139 | LAMA1 |
John Sayer gene: LAMA1 was added gene: LAMA1 was added to Rare multisystem ciliopathy disorders. Sources: Expert Review Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to https://www.ncbi.nlm.nih.gov/pubmed/25105227 Phenotypes for gene: LAMA1 were set to cerebellar cysts; myopia; cerebellar vermis hypoplasia; gaze palsy; retinitis pigments Penetrance for gene: LAMA1 were set to Complete Review for gene: LAMA1 was set to GREEN Added comment: LAMA1 causes Poretti-Boltshauser syndrome - but this is often misdiagnosed as Joubert syndrome so the ciliopathies panel needs to include LAMA1 Sources: Expert Review |
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