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Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.67 HNF1A Arina Puzriakova Phenotypes for gene: HNF1A were changed from MODY, type III, 600496; {Diabetes mellitus, noninsulin-dependent, 2}, 125853; {Diabetes mellitus, insulin-dependent}, 222100; Hepatic adenoma, somatic, 142330; Renal cell carcinoma, 144700; Diabetes mellitus, insulin-dependent, 20, 612520; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young (MODY); Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3; MODY3 to Diabetes mellitus, insulin-dependent, 20, OMIM:612520; {Diabetes mellitus, noninsulin-dependent, 2}, OMIM:125853; MODY, type III, OMIM:600496
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66 NKX2-2 Arina Puzriakova Tag gene-checked tag was added to gene: NKX2-2.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66 MT-TL1 Arina Puzriakova Tag gene-checked tag was added to gene: MT-TL1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66 ISCA-37432-Loss Arina Puzriakova commented on Region: ISCA-37432-Loss
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66 ISCA-37432-Loss Arina Puzriakova GRCh38 position for ISCA-37432-Loss was changed from 36458167-37854617 to 36458167-37854616.
Required Overlap Percentage for ISCA-37432-Loss was changed from 80 to 60.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.65 SLC29A3 Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782; Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.64 IL1RN Arina Puzriakova Phenotypes for gene: IL1RN were changed from {Gastric cancer risk after H. pylori infection}, 137215; {Microvascular complications of diabetes 4}, 612628; Interleukin 1 receptor antagonist deficiency, 612852; to {Microvascular complications of diabetes 4}, OMIM:612628
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.63 BSCL2 Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Berardinelli-Seip congenital lipodystrophy to Lipodystrophy, congenital generalized, type 2, OMIM:269700
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.62 WFS1 Eleanor Williams Phenotypes for gene: WFS1 were changed from Wolfram syndrome, 222300; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; ?Cataract 41,116400; Deafness,autosomal dominant 6/14/38, 600965; Wolfram syndrome, 222300; {Diabetes mellitus, noninsulin-dependent,association with}; diabetes insipidus or optic atrophy to Wolfram syndrome, OMIM:222300; Deafness, autosomal dominant 6/14/38, OMIM:600965; Wolfram-like syndrome, autosomal dominant, OMIM:614296; {Diabetes mellitus, noninsulin-dependent, association with}, OMIM:125853; ?Cataract 41, OMIM:116400; diabetes insipidus or optic atrophy
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.61 WFS1 Eleanor Williams Publications for gene: WFS1 were set to 27217304; 27185633
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.60 WFS1 Eleanor Williams commented on gene: WFS1
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.60 POLD1 Arina Puzriakova Phenotypes for gene: POLD1 were changed from multisystem disorder that includes subcutaneous lipodystrophy, deafness, mandibular hypoplasia and hypogonadism in males; Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 UGT1A1 Arina Puzriakova Tag curated_removed tag was added to gene: UGT1A1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 SPINK1 Arina Puzriakova Tag curated_removed tag was added to gene: SPINK1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 LIPC Arina Puzriakova Tag curated_removed tag was added to gene: LIPC.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 IL1RN Arina Puzriakova Tag curated_removed tag was added to gene: IL1RN.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 ENPP1 Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AVPR2 Arina Puzriakova Tag curated_removed tag was added to gene: AVPR2.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AVP Arina Puzriakova Tag curated_removed tag was added to gene: AVP.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 AQP2 Arina Puzriakova Tag curated_removed tag was added to gene: AQP2.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59 ACE Arina Puzriakova Tag curated_removed tag was added to gene: ACE.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.57 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 21345103
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.56 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.56 PLIN1 Louise Daugherty Added comment: Comment on list classification: This gene was downgraded from Green to Amber due to the findings of PMID: 30020498 - variants in this gene predicted to cause haplosufficiency are not a cause of familial partial lipodystrophy.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.56 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.55 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Diabetes with additional phenotypes suggestive of a monogenic aetiology. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to RCAD syndrome; utero-vaginal atresia; Schizophrenia; 614527; delayed development, intellectual disability; Renal cysts and diabetes syndrome; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; Chromosome 17q12 deletion syndrome; global developmental delay
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE2 Louise Daugherty commented on HFE2
Diabetes with additional phenotypes suggestive of a monogenic aetiology HNF4A Sarah Leigh reviewed HNF4A
Diabetes with additional phenotypes suggestive of a monogenic aetiology DMXL2 Ellen McDonagh classified DMXL2 as amber
Diabetes with additional phenotypes suggestive of a monogenic aetiology DMXL2 Ellen McDonagh added DMXL2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology DMXL2 Ellen McDonagh reviewed DMXL2
Diabetes with additional phenotypes suggestive of a monogenic aetiology TFR2 Sarah Leigh classified TFR2 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology TFR2 Sarah Leigh added TFR2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology TFR2 Sarah Leigh reviewed TFR2
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC40A1 Sarah Leigh classified SLC40A1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC40A1 Sarah Leigh added SLC40A1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC40A1 Sarah Leigh reviewed SLC40A1
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE2 Sarah Leigh classified HFE2 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE2 Sarah Leigh added HFE2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE2 Sarah Leigh reviewed HFE2
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE Sarah Leigh classified HFE as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology HFE Sarah Leigh reviewed HFE
Diabetes with additional phenotypes suggestive of a monogenic aetiology HAMP Sarah Leigh classified HAMP as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology HAMP Sarah Leigh added HAMP to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology HAMP Sarah Leigh reviewed HAMP
Diabetes with additional phenotypes suggestive of a monogenic aetiology STAT1 Ellen McDonagh marked STAT1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology STAT1 Ellen McDonagh classified STAT1 as red
Diabetes with additional phenotypes suggestive of a monogenic aetiology STAT1 Ellen McDonagh added STAT1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology STAT1 Ellen McDonagh reviewed STAT1
Diabetes with additional phenotypes suggestive of a monogenic aetiology PCBD1 Ellen McDonagh marked PCBD1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology PCBD1 Ellen McDonagh classified PCBD1 as red
Diabetes with additional phenotypes suggestive of a monogenic aetiology PCBD1 Ellen McDonagh added PCBD1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology PCBD1 Ellen McDonagh reviewed PCBD1
Diabetes with additional phenotypes suggestive of a monogenic aetiology IL2RA Ellen McDonagh marked IL2RA as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology IL2RA Ellen McDonagh classified IL2RA as red
Diabetes with additional phenotypes suggestive of a monogenic aetiology IL2RA Ellen McDonagh added IL2RA to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology IL2RA Ellen McDonagh reviewed IL2RA
Diabetes with additional phenotypes suggestive of a monogenic aetiology DCAF17 Ellen McDonagh marked DCAF17 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology DCAF17 Ellen McDonagh classified DCAF17 as red
Diabetes with additional phenotypes suggestive of a monogenic aetiology DCAF17 Ellen McDonagh added DCAF17 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology DCAF17 Ellen McDonagh reviewed DCAF17
Diabetes with additional phenotypes suggestive of a monogenic aetiology TRMT10A Ellen McDonagh marked TRMT10A as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology TRMT10A Ellen McDonagh classified TRMT10A as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology TRMT10A Ellen McDonagh added TRMT10A to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology TRMT10A Ellen McDonagh reviewed TRMT10A
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC29A3 Ellen McDonagh marked SLC29A3 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC29A3 Ellen McDonagh classified SLC29A3 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC29A3 Ellen McDonagh added SLC29A3 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology SLC29A3 Ellen McDonagh reviewed SLC29A3
Diabetes with additional phenotypes suggestive of a monogenic aetiology POLD1 Ellen McDonagh marked POLD1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology POLD1 Ellen McDonagh classified POLD1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology POLD1 Ellen McDonagh added POLD1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology POLD1 Ellen McDonagh reviewed POLD1
Diabetes with additional phenotypes suggestive of a monogenic aetiology PLIN1 Ellen McDonagh marked PLIN1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology PLIN1 Ellen McDonagh classified PLIN1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology PLIN1 Ellen McDonagh added PLIN1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology PLIN1 Ellen McDonagh reviewed PLIN1
Diabetes with additional phenotypes suggestive of a monogenic aetiology PIK3R1 Ellen McDonagh marked PIK3R1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology PIK3R1 Ellen McDonagh classified PIK3R1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology PIK3R1 Ellen McDonagh added PIK3R1 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology PIK3R1 Ellen McDonagh reviewed PIK3R1
Diabetes with additional phenotypes suggestive of a monogenic aetiology LRBA Ellen McDonagh marked LRBA as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology LRBA Ellen McDonagh classified LRBA as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology LRBA Ellen McDonagh added LRBA to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology LRBA Ellen McDonagh reviewed LRBA
Diabetes with additional phenotypes suggestive of a monogenic aetiology BSCL2 Ellen McDonagh marked BSCL2 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology BSCL2 Ellen McDonagh classified BSCL2 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology BSCL2 Ellen McDonagh added BSCL2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology BSCL2 Ellen McDonagh reviewed BSCL2
Diabetes with additional phenotypes suggestive of a monogenic aetiology AGPAT2 Ellen McDonagh marked AGPAT2 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology AGPAT2 Ellen McDonagh classified AGPAT2 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology AGPAT2 Ellen McDonagh added AGPAT2 to panel
Diabetes with additional phenotypes suggestive of a monogenic aetiology AGPAT2 Ellen McDonagh reviewed AGPAT2
Diabetes with additional phenotypes suggestive of a monogenic aetiology IER3IP1 Ellen McDonagh marked IER3IP1 as ready
Diabetes with additional phenotypes suggestive of a monogenic aetiology IER3IP1 Ellen McDonagh classified IER3IP1 as green
Diabetes with additional phenotypes suggestive of a monogenic aetiology IER3IP1 Ellen McDonagh commented on IER3IP1