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Neurological ciliopathies v3.18 | EXOC3L2 | Sarah Leigh Tag Q1_24_promote_green tag was added to gene: EXOC3L2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurological ciliopathies v3.18 | EXOC3L2 | Sarah Leigh Classified gene: EXOC3L2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurological ciliopathies v3.18 | EXOC3L2 | Sarah Leigh Added comment: Comment on list classification: There is sufficient evidence for this gene to be green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurological ciliopathies v3.18 | EXOC3L2 | Sarah Leigh Gene: exoc3l2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurological ciliopathies v3.17 | EXOC3L2 | Sarah Leigh Publications for gene: EXOC3L2 were set to 28749478; 27894351; 30327448 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurological ciliopathies v3.16 | EXOC3L2 | Sarah Leigh reviewed gene: EXOC3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurological ciliopathies v3.16 | EXOC3L2 | Sarah Leigh Publications for gene: EXOC3L2 were set to 28749478; 27894351 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurological ciliopathies v1.7 | EXOC3L2 | Zornitza Stark edited their review of gene: EXOC3L2: Added comment: Four individuals from two unrelated families reported.; Changed rating: AMBER; Changed publications: 28749478, 27894351, 30327448; Changed phenotypes: hindbrain abnormalities, kidney and bone marrow abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Neurological ciliopathies v0.3 | EXOC3L2 |
Ellen McDonagh gene: EXOC3L2 was added gene: EXOC3L2 was added to Neurological ciliopathies. Sources: Expert Review Red Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 28749478; 27894351 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios |