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Inherited white matter disorders v1.116 | CNTNAP1 | Arina Puzriakova Classified gene: CNTNAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.116 | CNTNAP1 |
Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Green - sufficient cases of white matter disease from unrelated families to warrant a Green rating. At least 10 unrelated families reported in literature (PMIDs: 28374019; 29511323; 29882456) . Brain imaging in all affected patients shows marked brain hypomyelination/demyelination, as well as variably reduced white matter volume and cerebral atrophy. |
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Inherited white matter disorders v1.116 | CNTNAP1 | Arina Puzriakova Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.115 | CNTNAP1 | Arina Puzriakova Publications for gene: CNTNAP1 were set to 29882456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.114 | CNTNAP1 | Arina Puzriakova Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, OMIM:618186 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.30 | CNTNAP1 | Sarah Leigh Classified gene: CNTNAP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.30 | CNTNAP1 | Sarah Leigh Added comment: Comment on list classification: This gene is awaiting curator evaluation and rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders v1.30 | CNTNAP1 | Sarah Leigh Gene: cntnap1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Inherited white matter disorders | CNTNAP1 | Zornitza Stark Added gene to panel |