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Insulin resistance (including lipodystrophy) v1.9 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Insulin resistance (including lipodystrophy) v1.9 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Insulin resistance (including lipodystrophy) v1.8 LIPE Ivone Leong gene: LIPE was added
gene: LIPE was added to Insulin resistance (including lipodystrophy). Sources: Expert list
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896; 25475467; 24848981
Review for gene: LIPE was set to GREEN
Added comment: Keven Colclough (Royal Devon & Exeter Hospital) has recommended that this gene be included in this panel. LIPE is a green gene in the Lipodystrophy - childhood onset panel (Version 1.0). LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with partial lipodystrophy with different variants in the LIPE gene.
Sources: Expert list
Insulin resistance (including lipodystrophy) v1.7 ADRA2A Ivone Leong commented on gene: ADRA2A: Familial partial lipodystrophy is not confirmed to be associated with ADRA2A in OMIM or Gene2Phenotype. There is only one variant reported (PMID: 27376152).
Insulin resistance (including lipodystrophy) v1.7 ADRA2A Ivone Leong gene: ADRA2A was added
gene: ADRA2A was added to Insulin resistance (including lipodystrophy). Sources: Expert list
Mode of inheritance for gene: ADRA2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ADRA2A were set to 27376152
Phenotypes for gene: ADRA2A were set to No OMIM number; familial partial lipodystrophy
Review for gene: ADRA2A was set to RED
Added comment: Gene added as recommended by Keven Colclough (Royal Devon & Exeter Hospital).
Sources: Expert list
Insulin resistance (including lipodystrophy) v1.6 PLIN1 Louise Daugherty Publications for gene: PLIN1 were set to 25114292; 21345103
Insulin resistance (including lipodystrophy) v1.5 PLIN1 Louise Daugherty Classified gene: PLIN1 as Amber List (moderate evidence)
Insulin resistance (including lipodystrophy) v1.5 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.
Insulin resistance (including lipodystrophy) v1.5 PLIN1 Louise Daugherty Gene: plin1 has been classified as Amber List (Moderate Evidence).
Insulin resistance (including lipodystrophy) v1.4 Ellen McDonagh Panel name changed from Insulin resistance (including lipodystrophy to Insulin resistance (including lipodystrophy)
List of related panels changed from Insulin resistance (including lipodystrophy); Insulin resistance (including lipodystrophy to Insulin resistance (including lipodystrophy
Insulin resistance (including lipodystrophy) PTRF Louise Daugherty commented on PTRF
Insulin resistance (including lipodystrophy) Sarah Leigh promoted panel to version 1
Insulin resistance (including lipodystrophy) AKT2 Sarah Leigh marked AKT2 as ready
Insulin resistance (including lipodystrophy) AKT2 Sarah Leigh classified AKT2 as red
Insulin resistance (including lipodystrophy) WRN Sarah Leigh marked WRN as ready
Insulin resistance (including lipodystrophy) WRN Sarah Leigh commented on WRN
Insulin resistance (including lipodystrophy) WRN Sarah Leigh classified WRN as green
Insulin resistance (including lipodystrophy) PIK3R1 Sarah Leigh marked PIK3R1 as ready
Insulin resistance (including lipodystrophy) PIK3R1 Sarah Leigh classified PIK3R1 as green
Insulin resistance (including lipodystrophy) PIK3R1 Sarah Leigh commented on PIK3R1
Insulin resistance (including lipodystrophy) POC1A Sarah Leigh marked POC1A as ready
Insulin resistance (including lipodystrophy) POC1A Sarah Leigh classified POC1A as red
Insulin resistance (including lipodystrophy) POC1A Sarah Leigh commented on POC1A
Insulin resistance (including lipodystrophy) POC1A Sarah Leigh classified POC1A as red
Insulin resistance (including lipodystrophy) PCYT1A Sarah Leigh marked PCYT1A as ready
Insulin resistance (including lipodystrophy) PCYT1A Sarah Leigh commented on PCYT1A
Insulin resistance (including lipodystrophy) PCYT1A Sarah Leigh classified PCYT1A as green
Insulin resistance (including lipodystrophy) PCNT Sarah Leigh marked PCNT as ready
Insulin resistance (including lipodystrophy) PCNT Sarah Leigh commented on PCNT
Insulin resistance (including lipodystrophy) PCNT Sarah Leigh classified PCNT as green
Insulin resistance (including lipodystrophy) NSMCE2 Sarah Leigh marked NSMCE2 as ready
Insulin resistance (including lipodystrophy) NSMCE2 Sarah Leigh classified NSMCE2 as red
Insulin resistance (including lipodystrophy) NSMCE2 Sarah Leigh commented on NSMCE2
Insulin resistance (including lipodystrophy) CIDEC Sarah Leigh marked CIDEC as ready
Insulin resistance (including lipodystrophy) CIDEC Sarah Leigh classified CIDEC as red
Insulin resistance (including lipodystrophy) CIDEC Sarah Leigh commented on CIDEC
Insulin resistance (including lipodystrophy) CIDEC Sarah Leigh classified CIDEC as green
Insulin resistance (including lipodystrophy) BLM Sarah Leigh marked BLM as ready
Insulin resistance (including lipodystrophy) BLM Sarah Leigh commented on BLM
Insulin resistance (including lipodystrophy) BLM Sarah Leigh classified BLM as green
Insulin resistance (including lipodystrophy) BLM Sarah Leigh classified BLM as red
Insulin resistance (including lipodystrophy) ALMS1 Sarah Leigh marked ALMS1 as ready
Insulin resistance (including lipodystrophy) ALMS1 Sarah Leigh commented on ALMS1
Insulin resistance (including lipodystrophy) ALMS1 Sarah Leigh classified ALMS1 as green
Insulin resistance (including lipodystrophy) AKT2 Sarah Leigh classified AKT2 as green
Insulin resistance (including lipodystrophy) AKT2 Sarah Leigh commented on AKT2
Insulin resistance (including lipodystrophy) ZMPSTE24 Sarah Leigh marked ZMPSTE24 as ready
Insulin resistance (including lipodystrophy) ZMPSTE24 Sarah Leigh commented on ZMPSTE24
Insulin resistance (including lipodystrophy) ZMPSTE24 Sarah Leigh classified ZMPSTE24 as green
Insulin resistance (including lipodystrophy) PPP1R3A Sarah Leigh marked PPP1R3A as ready
Insulin resistance (including lipodystrophy) PPP1R3A Sarah Leigh commented on PPP1R3A
Insulin resistance (including lipodystrophy) POLD1 Sarah Leigh marked POLD1 as ready
Insulin resistance (including lipodystrophy) POLD1 Sarah Leigh commented on POLD1
Insulin resistance (including lipodystrophy) POLD1 Sarah Leigh classified POLD1 as green
Insulin resistance (including lipodystrophy) PLIN1 Sarah Leigh marked PLIN1 as ready
Insulin resistance (including lipodystrophy) PLIN1 Sarah Leigh commented on PLIN1
Insulin resistance (including lipodystrophy) PLIN1 Sarah Leigh classified PLIN1 as green
Insulin resistance (including lipodystrophy) CAV1 Sarah Leigh marked CAV1 as ready
Insulin resistance (including lipodystrophy) CAV1 Sarah Leigh commented on CAV1
Insulin resistance (including lipodystrophy) AGPS Sarah Leigh marked AGPS as ready
Insulin resistance (including lipodystrophy) AGPS Sarah Leigh commented on AGPS
Insulin resistance (including lipodystrophy) PTRF Sarah Leigh marked PTRF as ready
Insulin resistance (including lipodystrophy) PTRF Sarah Leigh commented on PTRF
Insulin resistance (including lipodystrophy) PTRF Sarah Leigh classified PTRF as green
Insulin resistance (including lipodystrophy) PSMB8 Sarah Leigh marked PSMB8 as ready
Insulin resistance (including lipodystrophy) PSMB8 Sarah Leigh commented on PSMB8
Insulin resistance (including lipodystrophy) PSMB8 Sarah Leigh classified PSMB8 as red
Insulin resistance (including lipodystrophy) FGFR3 Sarah Leigh classified FGFR3 as red
Insulin resistance (including lipodystrophy) FGFR3 Sarah Leigh marked FGFR3 as ready
Insulin resistance (including lipodystrophy) FGFR3 Sarah Leigh commented on FGFR3
Insulin resistance (including lipodystrophy) PPARG Sarah Leigh marked PPARG as ready
Insulin resistance (including lipodystrophy) PPARG Sarah Leigh commented on PPARG
Insulin resistance (including lipodystrophy) LMNA Sarah Leigh marked LMNA as ready
Insulin resistance (including lipodystrophy) LMNA Sarah Leigh commented on LMNA
Insulin resistance (including lipodystrophy) INSR Sarah Leigh marked INSR as ready
Insulin resistance (including lipodystrophy) INSR Sarah Leigh commented on INSR
Insulin resistance (including lipodystrophy) BSCL2 Sarah Leigh marked BSCL2 as ready
Insulin resistance (including lipodystrophy) BSCL2 Sarah Leigh commented on BSCL2
Insulin resistance (including lipodystrophy) AGPAT2 Sarah Leigh marked AGPAT2 as ready
Insulin resistance (including lipodystrophy) AGPAT2 Sarah Leigh commented on AGPAT2