| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v1.727 | ABCB7 | Lucy Spencer Classified gene: ABCB7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.727 | ABCB7 | Lucy Spencer Gene: abcb7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.726 | ABCB7 |
Lucy Spencer gene: ABCB7 was added gene: ABCB7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ABCB7 were set to 11050011; 26242992 Phenotypes for gene: ABCB7 were set to Anaemia, sideroblastic, with ataxia, MIM# 301310 Review for gene: ABCB7 was set to AMBER Added comment: Some limited reports of developmental delay/ID in the literature and mentioned in the ClinGen review Sources: Literature |
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