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| Likely inborn error of metabolism - targeted testing not possible v2.136 | ABCB7 | Sarah Leigh Added comment: Comment on phenotypes: Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));congenital cerebellar hypoplasia/atrophy (PMID: 26242992).;Disorders of iron homeostasis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.136 | ABCB7 | Sarah Leigh Phenotypes for gene: ABCB7 were changed from Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis to Anemia, sideroblastic, with ataxia OMIM:301310; X-linked sideroblastic anemia with ataxia MONDO:0010524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.395 | ABCB7 | Catherine Snow Added comment: Comment on mode of inheritance: Changed MOI for consistency amongst other panels. XLR in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.395 | ABCB7 | Catherine Snow Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.395 | ABCB7 | Catherine Snow Added comment: Comment on mode of inheritance: Changed MOI for consistency amongst other panels. XLR in OMIM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.395 | ABCB7 | Catherine Snow Mode of inheritance for gene: ABCB7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCB7 |
Ivone Leong Source NHS GMS was added to ABCB7. Source London North GLH was added to ABCB7. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB7 |
Ellen McDonagh Added phenotypes Disorders of iron homeostasis; congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) for gene: ABCB7 Publications for gene ABCB7 were changed from PMID: 26242992; 17192398; 22398176 to 27604308 |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB7 |
Ellen McDonagh gene: ABCB7 was added gene: ABCB7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB7 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: ABCB7 were set to PMID: 26242992; 17192398; 22398176 Phenotypes for gene: ABCB7 were set to congenital cerebellar hypoplasia/atrophy (PMID: 26242992).; Anemia, sideroblastic, with ataxia; Disorders of iron homeostasis |
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