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Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram edited their review of gene: OFD1: Changed rating: AMBER; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although renal cysts are present in around half of the cases reported in PMID:11179005 (and associated with Orofaciodigital syndrome I, MIM #311200), they are syndromic cases./

As reviewed by Nour Elkhateeb, female patient reported in PMID:10910455 had renal cysts are the only apparent manifestation.

Hence, this gene can be promoted from red to amber with the current evidence.; to: Comment on list classification: Although renal cysts are present in around half of the cases reported in PMID:11179005 (and associated with Orofaciodigital syndrome I, MIM #311200), they are syndromic.

As reviewed by Nour Elkhateeb, female patient reported in PMID:10910455 had renal cysts are the only apparent manifestation.

Hence, this gene can be promoted from red to amber with the current evidence.
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram Classified gene: OFD1 as Amber List (moderate evidence)
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although renal cysts are present in around half of the cases reported in PMID:11179005 (and associated with Orofaciodigital syndrome I, MIM #311200), they are syndromic cases./

As reviewed by Nour Elkhateeb, female patient reported in PMID:10910455 had renal cysts are the only apparent manifestation.

Hence, this gene can be promoted from red to amber with the current evidence.
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Cystic kidney disease v5.7 OFD1 Achchuthan Shanmugasundram Publications for gene: OFD1 were set to
Cystic kidney disease v4.24 OFD1 Nour Elkhateeb changed review comment from: OFD1 appears to be highly penetrant, although highly variable in expression. In some reports, renal cysts are the only apparent manifestation in affected females. PMID: 10910455.; to: OFD1 appears to be highly penetrant, although highly variable in expression. In some reports, renal cysts are the only apparent manifestation in affected females. PMID: 10910455.
Cystic kidney disease v4.24 OFD1 Nour Elkhateeb reviewed gene: OFD1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 10910455; Phenotypes: renal cysts; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)