03 Nov 2022
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
10 May 2022
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.
04 May 2022
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.
16 Mar 2022
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.66
ISCA-37432-Loss
Arina Puzriakova commented on Region: ISCA-37432-Loss
16 Mar 2022
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.
10 Jan 2022
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
10 Jan 2022
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
28 Jul 2021
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
05 May 2021
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
05 May 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.61
WFS1
Eleanor Williams Publications for gene: WFS1 were set to 27217304; 27185633
05 May 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.60
WFS1
Eleanor Williams commented on gene: WFS1
08 Mar 2021
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
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
UGT1A1
Arina Puzriakova Tag curated_removed tag was added to gene: UGT1A1.
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
SPINK1
Arina Puzriakova Tag curated_removed tag was added to gene: SPINK1.
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
LIPC
Arina Puzriakova Tag curated_removed tag was added to gene: LIPC.
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
IL1RN
Arina Puzriakova Tag curated_removed tag was added to gene: IL1RN.
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
ENPP1
Arina Puzriakova Tag curated_removed tag was added to gene: ENPP1.
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
AVPR2
Arina Puzriakova Tag curated_removed tag was added to gene: AVPR2.
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
AVP
Arina Puzriakova Tag curated_removed tag was added to gene: AVP.
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
AQP2
Arina Puzriakova Tag curated_removed tag was added to gene: AQP2.
26 Feb 2021
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.59
ACE
Arina Puzriakova Tag curated_removed tag was added to gene: ACE.
20 Dec 2018
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.57
PLIN1
Louise Daugherty Publications for gene: PLIN1 were set to 21345103
20 Dec 2018
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.56
PLIN1
Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
20 Dec 2018
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.
20 Dec 2018
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.56
PLIN1
Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
07 Sep 2018
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
21 Mar 2018
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HFE2
Louise Daugherty commented on HFE2
14 Aug 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HNF4A
Sarah Leigh reviewed HNF4A
25 Jul 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
DMXL2
Ellen McDonagh classified DMXL2 as amber
25 Jul 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
DMXL2
Ellen McDonagh added DMXL2 to panel
25 Jul 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
DMXL2
Ellen McDonagh reviewed DMXL2
21 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
TFR2
Sarah Leigh classified TFR2 as green
21 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
TFR2
Sarah Leigh added TFR2 to panel
21 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
TFR2
Sarah Leigh reviewed TFR2
21 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
SLC40A1
Sarah Leigh classified SLC40A1 as green
21 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
SLC40A1
Sarah Leigh added SLC40A1 to panel
21 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
SLC40A1
Sarah Leigh reviewed SLC40A1
20 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HFE2
Sarah Leigh classified HFE2 as green
20 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HFE2
Sarah Leigh added HFE2 to panel
20 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HFE2
Sarah Leigh reviewed HFE2
20 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HFE
Sarah Leigh classified HFE as green
20 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HFE
Sarah Leigh reviewed HFE
16 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HAMP
Sarah Leigh classified HAMP as green
16 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HAMP
Sarah Leigh added HAMP to panel
16 Mar 2017
Diabetes with additional phenotypes suggestive of a monogenic aetiology
HAMP
Sarah Leigh reviewed HAMP
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
STAT1
Ellen McDonagh marked STAT1 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
STAT1
Ellen McDonagh classified STAT1 as red
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
STAT1
Ellen McDonagh added STAT1 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
STAT1
Ellen McDonagh reviewed STAT1
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PCBD1
Ellen McDonagh marked PCBD1 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PCBD1
Ellen McDonagh classified PCBD1 as red
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PCBD1
Ellen McDonagh added PCBD1 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PCBD1
Ellen McDonagh reviewed PCBD1
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
IL2RA
Ellen McDonagh marked IL2RA as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
IL2RA
Ellen McDonagh classified IL2RA as red
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
IL2RA
Ellen McDonagh added IL2RA to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
IL2RA
Ellen McDonagh reviewed IL2RA
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
DCAF17
Ellen McDonagh marked DCAF17 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
DCAF17
Ellen McDonagh classified DCAF17 as red
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
DCAF17
Ellen McDonagh added DCAF17 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
DCAF17
Ellen McDonagh reviewed DCAF17
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
TRMT10A
Ellen McDonagh marked TRMT10A as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
TRMT10A
Ellen McDonagh classified TRMT10A as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
TRMT10A
Ellen McDonagh added TRMT10A to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
TRMT10A
Ellen McDonagh reviewed TRMT10A
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
SLC29A3
Ellen McDonagh marked SLC29A3 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
SLC29A3
Ellen McDonagh classified SLC29A3 as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
SLC29A3
Ellen McDonagh added SLC29A3 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
SLC29A3
Ellen McDonagh reviewed SLC29A3
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
POLD1
Ellen McDonagh marked POLD1 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
POLD1
Ellen McDonagh classified POLD1 as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
POLD1
Ellen McDonagh added POLD1 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
POLD1
Ellen McDonagh reviewed POLD1
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PLIN1
Ellen McDonagh marked PLIN1 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PLIN1
Ellen McDonagh classified PLIN1 as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PLIN1
Ellen McDonagh added PLIN1 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PLIN1
Ellen McDonagh reviewed PLIN1
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PIK3R1
Ellen McDonagh marked PIK3R1 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PIK3R1
Ellen McDonagh classified PIK3R1 as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PIK3R1
Ellen McDonagh added PIK3R1 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
PIK3R1
Ellen McDonagh reviewed PIK3R1
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
LRBA
Ellen McDonagh marked LRBA as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
LRBA
Ellen McDonagh classified LRBA as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
LRBA
Ellen McDonagh added LRBA to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
LRBA
Ellen McDonagh reviewed LRBA
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
BSCL2
Ellen McDonagh marked BSCL2 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
BSCL2
Ellen McDonagh classified BSCL2 as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
BSCL2
Ellen McDonagh added BSCL2 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
BSCL2
Ellen McDonagh reviewed BSCL2
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
AGPAT2
Ellen McDonagh marked AGPAT2 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
AGPAT2
Ellen McDonagh classified AGPAT2 as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
AGPAT2
Ellen McDonagh added AGPAT2 to panel
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
AGPAT2
Ellen McDonagh reviewed AGPAT2
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
IER3IP1
Ellen McDonagh marked IER3IP1 as ready
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
IER3IP1
Ellen McDonagh classified IER3IP1 as green
23 Aug 2016
Diabetes with additional phenotypes suggestive of a monogenic aetiology
IER3IP1
Ellen McDonagh commented on IER3IP1