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Familial diabetes v1.36 ZBTB20 Ivone Leong Classified gene: ZBTB20 as Green List (high evidence)
Familial diabetes v1.36 ZBTB20 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).
Familial diabetes v1.36 ZBTB20 Ivone Leong Gene: zbtb20 has been classified as Green List (High Evidence).
Familial diabetes v1.35 ZBTB20 Ivone Leong Phenotypes for gene: ZBTB20 were changed from to Primrose syndrome, 259050
Familial diabetes v1.34 CEL Ivone Leong Classified gene: CEL as Green List (high evidence)
Familial diabetes v1.34 CEL Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).
Familial diabetes v1.34 CEL Ivone Leong Gene: cel has been classified as Green List (High Evidence).
Familial diabetes v1.33 CEL Ivone Leong Publications for gene: CEL were set to PMID: 16369531
Familial diabetes v1.32 PCBD1 Ivone Leong Classified gene: PCBD1 as Green List (high evidence)
Familial diabetes v1.32 PCBD1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).
Familial diabetes v1.32 PCBD1 Ivone Leong Gene: pcbd1 has been classified as Green List (High Evidence).
Familial diabetes v1.31 PLIN1 Ivone Leong Classified gene: PLIN1 as Green List (high evidence)
Familial diabetes v1.31 PLIN1 Ivone Leong Added comment: Comment on list classification: Promoted from amber to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).
Familial diabetes v1.31 PLIN1 Ivone Leong Gene: plin1 has been classified as Green List (High Evidence).
Familial diabetes v1.30 PLIN1 Ivone Leong Publications for gene: PLIN1 were set to 21345103; 30020498
Familial diabetes v1.29 DCAF17 Ivone Leong Classified gene: DCAF17 as Green List (high evidence)
Familial diabetes v1.29 DCAF17 Ivone Leong Added comment: Comment on list classification: Promoted from red to green based on the new evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).
Familial diabetes v1.29 DCAF17 Ivone Leong Gene: dcaf17 has been classified as Green List (High Evidence).
Familial diabetes v1.28 DCAF17 Ivone Leong Phenotypes for gene: DCAF17 were changed from to Woodhouse-Sakati syndrome, 241080
Familial diabetes v1.27 DCAF17 Ivone Leong Publications for gene: DCAF17 were set to 19026396; 20507343
Familial diabetes v1.26 AGPAT2 Ivone Leong Deleted their review
Familial diabetes v1.26 PPP1R15B Ivone Leong Phenotypes for gene: PPP1R15B were changed from to Microcephaly, short stature, and impaired glucose metabolism 2, 616817
Familial diabetes v1.25 PAX6 Ivone Leong Phenotypes for gene: PAX6 were changed from to Aniridia, 106210; diabetes
Familial diabetes v1.24 DYRK1B Ivone Leong Phenotypes for gene: DYRK1B were changed from to Abdominal obesity-metabolic syndrome 3, 615812
Familial diabetes v1.23 DNAJC3 Ivone Leong Phenotypes for gene: DNAJC3 were changed from to ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192
Familial diabetes v1.22 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, 604928 to Wolfram syndrome 2, 604928
Familial diabetes v1.21 CISD2 Ivone Leong Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2604928 to Wolfram syndrome 2, 604928
Familial diabetes v1.20 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II to Diabetes mellitus, type II,125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Familial diabetes v1.19 APPL1 Ivone Leong Phenotypes for gene: APPL1 were changed from to {Maturity-onset diabetes of the young, type 14}, 616511
Familial diabetes v1.17 DYRK1B Ivone Leong gene: DYRK1B was added
gene: DYRK1B was added to Familial diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DYRK1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial diabetes v1.17 DNAJC3 Ivone Leong gene: DNAJC3 was added
gene: DNAJC3 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DNAJC3 was set to BIALLELIC, autosomal or pseudoautosomal
Familial diabetes v1.17 APPL1 Ivone Leong gene: APPL1 was added
gene: APPL1 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: APPL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial diabetes v1.17 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AKT2 were set to 17327441; 17576055; 15166380
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II
Familial diabetes v1.17 CISD2 Ivone Leong gene: CISD2 was added
gene: CISD2 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 25056293; 17846994
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2604928
Familial diabetes v1.16 PPP1R15B Ivone Leong gene: PPP1R15B was added
gene: PPP1R15B was added to Familial diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PPP1R15B was set to BIALLELIC, autosomal or pseudoautosomal
Familial diabetes v1.16 PAX6 Ivone Leong gene: PAX6 was added
gene: PAX6 was added to Familial diabetes. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial diabetes v1.16 ZMPSTE24 Ivone Leong gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Familial diabetes. Sources: Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 20034068; 15317753; 16297189; 12913070; 18435794
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Familial diabetes v1.15 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 21345103
Familial diabetes v1.14 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Familial diabetes v1.14 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.
Familial diabetes v1.14 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Familial diabetes v1.13 ISCA-37432-Loss Louise Daugherty Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Familial diabetes. 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
Familial diabetes HNF4A Sarah Leigh edited their review of HNF4A
Familial diabetes HNF4A Sarah Leigh commented on HNF4A
Familial diabetes PCBD1 Sarah Leigh classified PCBD1 as amber
Familial diabetes PCBD1 Sarah Leigh commented on PCBD1
Familial diabetes PCBD1 Sarah Leigh classified PCBD1 as amber