Activity

Filter

Cancel
Date Panel Item Activity
14 actions
Hereditary neuropathy or pain disorder v6.148 PLA2G16 Sarah Leigh Tag Q3_24_promote_green was removed from gene: PLA2G16.
Tag Q3_24_NHS_review was removed from gene: PLA2G16.
Hereditary neuropathy or pain disorder v6.148 PLA2G16 Sarah Leigh reviewed gene: PLA2G16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v6.147 PLA2G16 Sarah Leigh Source NHS GMS was added to PLA2G16.
Source Expert Review Green was added to PLA2G16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.19 PLA2G16 Eleanor Williams changed review comment from: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature.

PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial Lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families.

Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.; to: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature.

PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families. Psychomotor retardation/intellectual disability was observed in 3/7 patients but the severity is not recorded.

Age of onset of symptoms was 19 years, 8 years, 9 months, 4 years, 4 years (not available for 2 patients).

Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.
Hereditary neuropathy or pain disorder v6.19 PLA2G16 Eleanor Williams Classified gene: PLA2G16 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v6.19 PLA2G16 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation for green rating following GMS review. 4 cases with 3 different variants in PLAAT3 and a consistent phenotype that includes peripheral neuropathy.
Hereditary neuropathy or pain disorder v6.19 PLA2G16 Eleanor Williams Gene: pla2g16 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v6.18 PLA2G16 Eleanor Williams Phenotypes for gene: PLA2G16 were changed from to Associated with Lipodystrophy, familial partial, type 9, OMIM:620683; lipodystrophy, familial partial, type 9, MONDO:0958034
Hereditary neuropathy or pain disorder v6.17 PLA2G16 Eleanor Williams Tag new-gene-name tag was added to gene: PLA2G16.
Tag Q3_24_promote_green tag was added to gene: PLA2G16.
Tag Q3_24_NHS_review tag was added to gene: PLA2G16.
Hereditary neuropathy or pain disorder v6.17 PLA2G16 Eleanor Williams commented on gene: PLA2G16: The new gene name for PLA2G16 is PLAAT3.
Hereditary neuropathy or pain disorder v6.17 PLA2G16 Eleanor Williams edited their review of gene: PLA2G16: Added comment: Associated with Lipodystrophy, familial partial, type 9 620683 (AR) in OMIM where Demyelinating sensorimotor neuropathy is listed as a clinical feature.

PMID: 37919452 - Schuermans et al 2023 - 7 patients from 4 unrelated families with 3 different homozygous variants (c.16-4823_118+167del p.(Pro6ValfsTer15), c.286dupG p.(Ala96GlyfsTer16) and c.339C>A p.(Cys113Ter). All patients had generalized or partial Lipoatrophy, insulin resistance and Liver steatosis, and 6/7 showed Dyslipidemia/hypertriglyceridemia. Demyelinating peripheral neuropathy was seen in 5/7 patients from all 4 families.

Function studies with PLAAT3 inactivation in human adipose stem cells provides evidence for PLAAT3 in PPARγ-mediated adipogenesis.; Changed phenotypes to: Associated with Lipodystrophy, familial partial, type 9, OMIM:620683, lipodystrophy, familial partial, type 9, MONDO:0958034
Hereditary neuropathy or pain disorder v6.17 PLA2G16 Eleanor Williams gene: PLA2G16 was added
gene: PLA2G16 was added to Hereditary neuropathy or pain disorder. Sources: Expert list
Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G16 were set to 37919452
Added comment: Added as green by Alexander Rossor (UCL Institute of Neurology) - see https://panelapp.genomicsengland.co.uk/panels/846/gene/PLAA/
Sources: Expert list
Hereditary neuropathy or pain disorder v6.16 PLAA Eleanor Williams changed review comment from: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.; to: The paper PMID:37919452 refers to gene PLAAT3 previously known as PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.
Hereditary neuropathy or pain disorder v6.16 PLAA Eleanor Williams changed review comment from: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curator_removed' added.; to: The paper PMID:37919452 refers to gene PLAAT3, PLA2G16 and mentions transcript NM_001128203. This corresponds to the gene PLA2G16 with Ensembl ID ENSG00000176485 in the current PanelApp database and not PLAA ENSG00000137055.

Therefore this review will be copied to PLA2G16 and PLAA will have the tag 'curated_removed' added.