Clinical Domain Working Groups
Monogenic Diabetes Variant Curation Expert Panel
Membership DocumentsThe Monogenic Diabetes Expert Panel will develop a sustainable process for systematic consensus review for pathogenicity and submission to ClinVar of MODY, neonatal diabetes genes, Wolfram syndrome, mitochondrial diabetes and other syndromic genes agreed upon by consensus.
We will develop gene-specific rules, curate at an expert panel level, and deposit curations into ClinVar variants in genes implicated in monogenic autoimmune diabetes: AIRE (Type 1 autoimmune polyendocrinopathy syndrome and autoimmune diabetes), FOXP3 (immunodysregulation, polyendocrinopathy, and enteropathy, X-linked syndrome; IPEX), LRBA (immunodysregulation and autoimmune diabetes), IL2RA (immunodeficiency 41 with lymphoproliferation and autoimmunity), STAT3 (neonatal diabetes and polyautoimmune disease), and SLC29A3 (histocytosis with non-autoimmune diabetes). We will also focus on genes implicated in monogenic insulin resistance and/or lipodystrophy: INSR (syndromes of extreme insulin resistance); PIK3R1 (SHORT syndrome); AGPAT2, BSCL2, and CAVIN1 (congenital generalized lipodystrophy); LMNA, PPARG, and PLIN1 (familial partial lipodystrophy), and POLD1 and MFN2 (genes implicated in colorectal cancer susceptibility and Charcot-Marie-Tooth disease respectively but with certain variants implicated in partial lipodystrophy).
Expert Panel Status
Documents
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Monogenic Diabetes Variant Curation Expert Panel COIConflict Of Interest (COI) - August 25, 2022
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ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.2Curation Activity Procedures - August 4, 2022 - Release Notes from v1.1 to v1.2: Typo corrected, “Variants generating PTCs 5’ of c.1714 of NM_000545.8..." corrected to "Variants generating PTCs 3’ of c.1714 of NM_000545.8...” Archived Document
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ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1Curation Activity Procedures - September 30, 2021 - Release Notes/Changes from v1: Typo corrected, “p.Leu197_Leu205del” in v1 replaced with “p.Lys197_Lys205” in v1.1 Archived Document
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ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1Curation Activity Procedures - August 26, 2021 Archived Document
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MDEP_ExpertPanelApplication_Step1Expert Panel Applications - April 16, 2019
Expert Panel Membership
Membership spans many fields, including genetics, medical, academia, and industry.