| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.43 | DENND5A | Zornitza Stark Marked gene: DENND5A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.43 | DENND5A | Zornitza Stark Gene: dennd5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.43 | DENND5A | Zornitza Stark Classified gene: DENND5A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.43 | DENND5A | Zornitza Stark Gene: dennd5a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.38 | DENND5A |
Yetong Chen gene: DENND5A was added gene: DENND5A was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DENND5A were set to 32734340; 27866705 Phenotypes for gene: DENND5A were set to Developmental and epileptic encephalopathy 49, MIM# 617281 Review for gene: DENND5A was set to RED Added comment: Limited evidence supports a causal role of the DENND5A gene in brain calcification. PMID 27866705 reports that 3 individuals with DENND5A variants, who were from 2 families, developed brain calcification. Co-segregation of the DENND5A variant and pathogenic phenotype is confirmed by sequencing their parents and unaffected sibs. Sources: Expert list |
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