| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.72 | ZMIZ1 | Zornitza Stark Marked gene: ZMIZ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.72 | ZMIZ1 | Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.72 | ZMIZ1 | Zornitza Stark Classified gene: ZMIZ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.72 | ZMIZ1 | Zornitza Stark Gene: zmiz1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.71 | ZMIZ1 |
Michelle Torres gene: ZMIZ1 was added gene: ZMIZ1 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMIZ1 were set to 30639322 Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659) Review for gene: ZMIZ1 was set to GREEN Added comment: Out of 19 individuals reported with a neurodevelopmental phenotype (16 unrelated), 4 presented hearing loss. One of these individuals (#13) also had 2 affected siblings that did not present hearing loss (#14 and #15) (PMID: 30639322). Sources: Literature |
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