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| Intellectual disability syndromic and non-syndromic v1.768 | OLA1 | Zornitza Stark Marked gene: OLA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.768 | OLA1 | Zornitza Stark Gene: ola1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.768 | Zornitza Stark Copied gene OLA1 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.768 | OLA1 |
Zornitza Stark gene: OLA1 was added gene: OLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature Mode of inheritance for gene: OLA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OLA1 were set to 41887223 Phenotypes for gene: OLA1 were set to Neurodevelopmental disorder, MONDO:0700092, OLA1-related |
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| Intellectual disability syndromic and non-syndromic v0.1613 | POLA1 | Alison Yeung Marked gene: POLA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1613 | POLA1 | Alison Yeung Gene: pola1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1613 | POLA1 | Alison Yeung Classified gene: POLA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1613 | POLA1 | Alison Yeung Gene: pola1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1612 | POLA1 |
Alison Yeung gene: POLA1 was added gene: POLA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: POLA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: POLA1 were set to PMID: 31006512 Phenotypes for gene: POLA1 were set to Van Esch-O'Driscoll syndrome OMIM# 301030 Review for gene: POLA1 was set to GREEN gene: POLA1 was marked as current diagnostic Added comment: Five unrelated families reported Sources: Literature |
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