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| Deafness_IsolatedAndComplex v1.99 | HOXA1 | Zornitza Stark Marked gene: HOXA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.99 | HOXA1 | Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.99 | HOXA1 | Zornitza Stark Phenotypes for gene: HOXA1 were changed from thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536 to Athabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.98 | HOXA1 | Zornitza Stark Classified gene: HOXA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.98 | HOXA1 | Zornitza Stark Gene: hoxa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.97 | HOXA1 |
Ain Roesley gene: HOXA1 was added gene: HOXA1 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXA1 were set to 16155570; 18412118; 32864817 Phenotypes for gene: HOXA1 were set to thabaskan brainstem dysgenesis syndrome MIM#601536; Bosley-Salih-Alorainy syndrome MIM#601536 Penetrance for gene: HOXA1 were set to Complete Review for gene: HOXA1 was set to GREEN gene: HOXA1 was marked as current diagnostic Added comment: At least 10 families reported. 175-176insG is known as the Saudi Arabian variant, while 76C>T is known as the native american variant. Features include: Conotruncal heart defects, Abnormalities of the internal carotid artery and other cerebral arteries, Abnormal skull base Biallelic variants in this gene cause a syndrome affecting hindbrain development, with BSAS and ABDS allelic disorders. Sources: Literature |
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