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| Neurological ciliopathies v2.6 | LAMA1 |
Arina Puzriakova Tag Q3_21_rating was removed from gene: LAMA1. Tag Q3_21_expert_review was removed from gene: LAMA1. |
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| Neurological ciliopathies v2.6 | LAMA1 | Arina Puzriakova edited their review of gene: LAMA1: Added comment: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v2.5 | LAMA1 |
Arina Puzriakova Source Expert Review Green was added to LAMA1. Source NHS GMS was added to LAMA1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Neurological ciliopathies v1.18 | LAMA1 | Arina Puzriakova Classified gene: LAMA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.18 | LAMA1 | Arina Puzriakova Added comment: Comment on list classification: Clinical features of Poretti-Boltshauser syndrome resemble Joubert syndrome which can lead to misdiagnosis. Although not a ciliopathy per se, inclusion on ciliopathy panels may be warranted to enable differential diagnosis. The LAMA1 gene will be flagged for GMS specialist review to determine whether it is appropriate to include this gene on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.18 | LAMA1 | Arina Puzriakova Gene: lama1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.17 | LAMA1 |
Arina Puzriakova Tag Q3_21_rating tag was added to gene: LAMA1. Tag Q3_21_expert_review tag was added to gene: LAMA1. |
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| Neurological ciliopathies v1.17 | LAMA1 | Arina Puzriakova Entity copied from Rare multisystem ciliopathy disorders v1.146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurological ciliopathies v1.17 | LAMA1 |
Arina Puzriakova gene: LAMA1 was added gene: LAMA1 was added to Neurological ciliopathies. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA1 were set to 25105227; 34423300 Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome OMIM:615960; ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 Penetrance for gene: LAMA1 were set to Complete |
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