Activity

Filter

Cancel
Date Panel Item Activity
124 actions
Lipodystrophy - childhood onset v2.16 BSCL2 Arina Puzriakova Phenotypes for gene: BSCL2 were changed from Lipodystrophy, congenital generalized, type 2, 269700 to Lipodystrophy, congenital generalized, type 2, OMIM:269700; Encephalopathy, progressive, with or without lipodystrophy, OMIM:615924
Lipodystrophy - childhood onset v2.15 OTULIN Ivone Leong Classified gene: OTULIN as Amber List (moderate evidence)
Lipodystrophy - childhood onset v2.15 OTULIN Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Lipodystrophy - childhood onset v2.15 OTULIN Ivone Leong Gene: otulin has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v2.14 OTULIN Ivone Leong Tag Q2_21_rating tag was added to gene: OTULIN.
Lipodystrophy - childhood onset v2.14 KCNJ6 Ivone Leong Classified gene: KCNJ6 as Amber List (moderate evidence)
Lipodystrophy - childhood onset v2.14 KCNJ6 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Lipodystrophy - childhood onset v2.14 KCNJ6 Ivone Leong Gene: kcnj6 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v2.13 KCNJ6 Ivone Leong Tag Q2_21_rating tag was added to gene: KCNJ6.
Lipodystrophy - childhood onset v2.13 FBN1 Ivone Leong Classified gene: FBN1 as Amber List (moderate evidence)
Lipodystrophy - childhood onset v2.13 FBN1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Lipodystrophy - childhood onset v2.13 FBN1 Ivone Leong Gene: fbn1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v2.12 FBN1 Ivone Leong Tag Q2_21_rating tag was added to gene: FBN1.
Lipodystrophy - childhood onset v2.12 OTULIN Ivone Leong Phenotypes for gene: OTULIN were changed from Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 to Autoinflammation, panniculitis, and dermatosis syndrome, OMIM:617099
Lipodystrophy - childhood onset v2.11 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan lipodystrophy syndrome, MIM# 616914 to Marfan lipodystrophy syndrome, OMIM:616914
Lipodystrophy - childhood onset v2.10 KCNJ6 Ivone Leong Phenotypes for gene: KCNJ6 were changed from Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572 to Keppen-Lubinsky syndrome, OMIM:614098; Keppen-Lubinsky syndrome, MONDO:0013572
Lipodystrophy - childhood onset v2.9 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Lipodystrophy - childhood onset. Sources: Expert Review
Mode of inheritance for gene: OTULIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OTULIN were set to 27523608; 27559085
Phenotypes for gene: OTULIN were set to Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099
Review for gene: OTULIN was set to GREEN
gene: OTULIN was marked as current diagnostic
Added comment: Autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection.

At least 3 unrelated families reported.
Sources: Expert Review
Lipodystrophy - childhood onset v2.9 KCNJ6 Zornitza Stark gene: KCNJ6 was added
gene: KCNJ6 was added to Lipodystrophy - childhood onset. Sources: Expert Review
Mode of inheritance for gene: KCNJ6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ6 were set to 25620207; 29852244
Phenotypes for gene: KCNJ6 were set to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572
Review for gene: KCNJ6 was set to GREEN
gene: KCNJ6 was marked as current diagnostic
Added comment: Keppen-Lubinsky syndrome characterised by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth.

Four unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model. One of the individuals did not have lipodystrophy but had a prominent hyperkinetic movement disorder.
Sources: Expert Review
Lipodystrophy - childhood onset v2.9 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Lipodystrophy - childhood onset. Sources: Expert Review
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBN1 were set to 20979188; 21594992; 21594993; 24613577; 26860060; 29666143
Phenotypes for gene: FBN1 were set to Marfan lipodystrophy syndrome, MIM# 616914
Review for gene: FBN1 was set to GREEN
gene: FBN1 was marked as current diagnostic
Added comment: The marfanoid-progeroid-lipodystrophy syndrome (MFLS) is characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. Other characteristic features include arachnodactyly, digital hyperextensibility, myopia, dural ectasia, and normal psychomotor development.

This specific phenotype is caused by variants occurring in or affecting exon 64.

More than 5 unrelated individuals reported, rabbit model.
Sources: Expert Review
Lipodystrophy - childhood onset v2.9 AKT2 Arina Puzriakova Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900; Partial lipodystrophy to Diabetes mellitus, type II, OMIM:125853; Type 2 diabetes mellitus, MONDO:0005148; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Partial lipodystrophy
Lipodystrophy - childhood onset v2.8 VIM Eleanor Williams gene: VIM was added
gene: VIM was added to Lipodystrophy - childhood onset. Sources: Literature
Mode of inheritance for gene: VIM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VIM were set to 32066935
Phenotypes for gene: VIM were set to lipodystrophy HP:0009125
Review for gene: VIM was set to RED
Added comment: Previously variants in this gene have been associated with cataracts (PMID: 26694549, 19126778). Cogne et al 2020 (PMID: 32066935) - report a de novo heterozygous variant in VIM (c.1160 T > C; p.(Leu387Pro)) causing a syndromic disorder affecting craniofacial development, peripheral nervous system, and adipose and ectodermal tissues in a 39 year old male. The variant was identified by WES. Both parents lacked the variant. Expression of human vimentin p.(Leu387Pro) in zebrafish resulted in a phenotype of perturbed body fat distribution, and craniofacial and peripheral nervous system development. Functional studies using patient-derived and transfected cells showed that the variant affects vimentin turnover and its ability to form filaments in the absence of wild-type vimentin.
Sources: Literature
Lipodystrophy - childhood onset v2.7 POLR3GL Ivone Leong Classified gene: POLR3GL as Red List (low evidence)
Lipodystrophy - childhood onset v2.7 POLR3GL Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There are 3 unrelated families with variants in this gene; however, lipodystrophy is only described in 1 family. Adding as Red gene until further evidence is available.
Lipodystrophy - childhood onset v2.7 POLR3GL Ivone Leong Gene: polr3gl has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v2.6 MTX2 Ivone Leong Tag for-review tag was added to gene: MTX2.
Lipodystrophy - childhood onset v2.6 MTX2 Ivone Leong Classified gene: MTX2 as Amber List (moderate evidence)
Lipodystrophy - childhood onset v2.6 MTX2 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene will be rated Amber and promoted to Green at the next review of the panel.
Lipodystrophy - childhood onset v2.6 MTX2 Ivone Leong Gene: mtx2 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v2.5 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Lipodystrophy - childhood onset. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Review for gene: MTX2 was set to GREEN
Added comment: Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation.
Sources: Literature
Lipodystrophy - childhood onset v2.5 POLR3GL Zornitza Stark gene: POLR3GL was added
gene: POLR3GL was added to Lipodystrophy - childhood onset. Sources: Literature
Mode of inheritance for gene: POLR3GL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3GL were set to 31089205; 31695177
Phenotypes for gene: POLR3GL were set to endosteal hyperostosis; oligodontia; growth retardation; facial dysmorphisms; lipodystrophy
Review for gene: POLR3GL was set to AMBER
Added comment: Biallelic canonical splice variants identified in monozygotic twins and another individual with similar phenotypes from 2 unrelated families. RNA studies confirmed exon skipping occurs in all affected individuals.

A separate study identified a homozygous nonsense variant in an individual with features of Neonatal progeroid syndrome/Wiedemann–Rautenstrauch syndrome. Quantitative PCR showed reduction in mRNA suggestive of NMD.

Three cases altogether but the phenotypes are very different -- may represent a spectrum with the more severe phenotypes resulting from truncating variants but further cases needed.
Sources: Literature
Lipodystrophy - childhood onset v2.5 Sarah Leigh Panel version has been signed off
Lipodystrophy - childhood onset v2.3 Sarah Leigh Panel version has been signed off
Lipodystrophy - childhood onset v2.0 Ivone Leong promoted panel to version 2.0
Lipodystrophy - childhood onset v1.10 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Lipodystrophy - childhood onset v1.8 Ivone Leong List of related panels changed from to R158
Lipodystrophy - childhood onset v1.7 CAV1 Ivone Leong Classified gene: CAV1 as Green List (high evidence)
Lipodystrophy - childhood onset v1.7 CAV1 Ivone Leong Added comment: Comment on list classification: New gene added by reviewer. After reviewing the evidence provided by the expert reviewer, it was decided that there is enough evidence to promote this gene from amber to green.

It should be noted that causative variants might only be those that are either homozygous null variants or heterozygous variants that causes truncated protein to be made.
Lipodystrophy - childhood onset v1.7 CAV1 Ivone Leong Gene: cav1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v1.6 CAV1 Kevin Colclough commented on gene: CAV1: Id initially classified as green but I think this is more complex due to the fact that there are reports of both dominant and recessively inherited variants causing different phenotypes.I think there is a genotype-phenotype association here, and I dont think haploinsufficiency is a disease mechanism since individuals with heterozygous loss of protein expression do not have a lipodystrophy phenotype (whole gene deletion patients and the heterozygous parents with p.Glu38Ter).All other reported variants are within the last exon and are expected to escape nonsense mediated decay, generating a truncated protein or a full length protein with an altered C-terminal sequence. The p.(Phe160Ter) variant looks to be a definite CGL causing variant. Then there are two other PTC variants resulting in a shorter protein with a lipodystrophy phenotype. And finally two patients with very similar frameshift variants that result in full-length proteins with altered C-terminal amino acid sequence. So it could be that only homozygous null variants or heterozygous variants that result in a truncated protein are causing a lipodystrophy phenotype.
Lipodystrophy - childhood onset v1.5 CAV1 Ivone Leong Phenotypes for gene: CAV1 were changed from ?Lipodystrophy, congenital generalized, type 3, 612526 to ?Lipodystrophy, congenital generalized, type 3, 612526; Lipodystrophy, familial partial, type 7, 606721
Lipodystrophy - childhood onset v1.4 CAV1 Ivone Leong Publications for gene: CAV1 were set to PMID: 18390817; 18237401; 18211975; 25898808; 26176221; 27717241; 11739396; 23049990
Lipodystrophy - childhood onset v1.3 CAV1 Kevin Colclough edited their review of gene: CAV1: Added comment: 5 different loss of function variants have been reported in CAV1 to date associated with a lipodystrophy phenotype. No missense variants reported. GnomAD pLi score of 0.67 does not suggest that CAV1 is intolerant to loss of function variants.

Both heterozygous and homozygous LoF variants have been reported in patients with congenital lipodystrophy (PMID: 18211975, 25898808, 18237401).

A heterozygous c.-88del variant within the 5'UTR was identified in a patient with adult-onset partial lipodystrophy but with no proposed mechanism for a pathogenic effect on CAV1 (PMID: 18237401; the authors incorrectly described this a frameshift variant).

Frameshift variants within the C-terminal region of the gene that are predicted to escape NMD have been reported in patients with PAH but no lipodystrophy phenotype (PMID: 22474227).; Changed publications: PMID: 18390817, 18237401, 18211975, 25898808, 26176221, 22474227, 27717241, 11739396, 23049990; Changed phenotypes: ?Lipodystrophy, congenital generalized, type 3, 612526, Lipodystrophy, familial partial, type 7, 606721
Lipodystrophy - childhood onset v1.3 CAV1 Kevin Colclough gene: CAV1 was added
gene: CAV1 was added to Lipodystrophy - childhood onset. Sources: Expert Review
Mode of inheritance for gene: CAV1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CAV1 were set to PMID: 18390817; 18237401; 18211975; 25898808; 26176221; 27717241; 11739396; 23049990
Phenotypes for gene: CAV1 were set to ?Lipodystrophy, congenital generalized, type 3, 612526
Penetrance for gene: CAV1 were set to Complete
Review for gene: CAV1 was set to AMBER
gene: CAV1 was marked as current diagnostic
Added comment: Sources: Expert Review
Lipodystrophy - childhood onset v1.2 PLIN1 Sarah Leigh Publications for gene: PLIN1 were set to 21345103; 25114292; 30020498
Lipodystrophy - childhood onset v1.1 PLIN1 Anna de Burca Classified gene: PLIN1 as Green List (high evidence)
Lipodystrophy - childhood onset v1.1 PLIN1 Anna de Burca Gene: plin1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v1.0 PLIN1 Anna de Burca reviewed gene: PLIN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30020498; Phenotypes: Lipodystrophy, familial partial, type 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy - childhood onset v1.0 LIPE Ivone Leong commented on gene: LIPE: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Lipodystrophy - childhood onset v1.0 ZMPSTE24 Ivone Leong commented on gene: ZMPSTE24
Lipodystrophy - childhood onset v1.0 PPARG Ivone Leong commented on gene: PPARG
Lipodystrophy - childhood onset v1.0 POLD1 Ivone Leong commented on gene: POLD1
Lipodystrophy - childhood onset v1.0 LMNA Ivone Leong commented on gene: LMNA
Lipodystrophy - childhood onset v1.0 CAVIN1 Ivone Leong commented on gene: CAVIN1
Lipodystrophy - childhood onset v1.0 CAVIN1 Ivone Leong Deleted their review
Lipodystrophy - childhood onset v1.0 CAVIN1 Ivone Leong Deleted their comment
Lipodystrophy - childhood onset v1.0 CAVIN1 Ivone Leong commented on gene: CAVIN1
Lipodystrophy - childhood onset v1.0 BSCL2 Ivone Leong commented on gene: BSCL2
Lipodystrophy - childhood onset v1.0 AGPAT2 Ivone Leong commented on gene: AGPAT2
Lipodystrophy - childhood onset v1.0 Ellen McDonagh promoted panel to version 1.0
Lipodystrophy - childhood onset v0.17 CIDEC Ivone Leong Marked gene: CIDEC as ready
Lipodystrophy - childhood onset v0.17 CIDEC Ivone Leong Gene: cidec has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 AKT2 Ivone Leong Marked gene: AKT2 as ready
Lipodystrophy - childhood onset v0.17 AKT2 Ivone Leong Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 ADRA2A Ivone Leong Marked gene: ADRA2A as ready
Lipodystrophy - childhood onset v0.17 ADRA2A Ivone Leong Gene: adra2a has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Marked gene: LIPE as ready
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong commented on gene: LIPE: Keven Colclough (Royal Devon & Exeter Hospital) has agreed that LIPE should be promoted to green gene status.
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Marked gene: LIPE as ready
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Deleted their comment
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Added comment: Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as a red gene as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). 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. Therefore, LIPE has been promoted from red to green status.
Lipodystrophy - childhood onset v0.17 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Classified gene: LIPE as Green List (high evidence)
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Added comment: Comment on list classification: Promoted from red to green gene. LIPE was included in the gene list as a red gene as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). 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. Therefore, LIPE has been promoted from red to green status.
Lipodystrophy - childhood onset v0.16 LIPE Ivone Leong Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.15 LIPE Ivone Leong Publications for gene: LIPE were set to 27862896
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Marked gene: ADRA2A as ready
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Added comment: Comment when marking as ready: ARDRA2A was included in this panel as a red gene as suggested by Keven Colclough (Royal Devon & Exeter Hospital). Familial partial lipodystrophy is not confirmed to be associated with ADRA2A in OMIM or Gene2Phenotype. There is only one variant reported (PMID: 27376152).
Lipodystrophy - childhood onset v0.14 ADRA2A Ivone Leong Gene: adra2a has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Marked gene: AKT2 as ready
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Added comment: Comment when marking as ready: AKT2 was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). AKT2 is a red gene in the Insulin resistance (including lipodystrophy) (Version 1.6) panel and only 1 variant has been reported when this gene was reviewed for that panel (2016). There has not been any new variants for this gene.
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Gene: akt2 has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.14 AKT2 Ivone Leong Publications for gene: AKT2 were set to
Lipodystrophy - childhood onset v0.13 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 to Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900; Partial lipodystrophy
Lipodystrophy - childhood onset v0.12 AKT2 Ivone Leong Phenotypes for gene: AKT2 were changed from Diabetes mellitus, type II, 125853 to Diabetes mellitus, type II, 125853; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Marked gene: CIDEC as ready
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Added comment: Comment when marking as ready: CIDEC was included in the gene list as suggested by Kevin Colclough (Royal Devon & Exeter Hospital). CIDEC is a red gene in the Insulin resistance (including lipodystrophy) (Version 1.6) panel and only 1 variant has been reported when this gene was reviewed for that panel (2016). There has not been any new variants for this gene.
Lipodystrophy - childhood onset v0.11 CIDEC Ivone Leong Gene: cidec has been classified as Red List (Low Evidence).
Lipodystrophy - childhood onset v0.11 PLIN1 Ivone Leong Marked gene: PLIN1 as ready
Lipodystrophy - childhood onset v0.11 PLIN1 Ivone Leong Gene: plin1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v0.11 ZMPSTE24 Ivone Leong Marked gene: ZMPSTE24 as ready
Lipodystrophy - childhood onset v0.11 ZMPSTE24 Ivone Leong Gene: zmpste24 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 PPARG Ivone Leong Marked gene: PPARG as ready
Lipodystrophy - childhood onset v0.11 PPARG Ivone Leong Gene: pparg has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 POLD1 Ivone Leong Marked gene: POLD1 as ready
Lipodystrophy - childhood onset v0.11 POLD1 Ivone Leong Gene: pold1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 LMNA Ivone Leong Marked gene: LMNA as ready
Lipodystrophy - childhood onset v0.11 LMNA Ivone Leong Gene: lmna has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 CAVIN1 Ivone Leong Marked gene: CAVIN1 as ready
Lipodystrophy - childhood onset v0.11 CAVIN1 Ivone Leong Gene: cavin1 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 BSCL2 Ivone Leong Marked gene: BSCL2 as ready
Lipodystrophy - childhood onset v0.11 BSCL2 Ivone Leong Gene: bscl2 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 AGPAT2 Ivone Leong Marked gene: AGPAT2 as ready
Lipodystrophy - childhood onset v0.11 AGPAT2 Ivone Leong Gene: agpat2 has been classified as Green List (High Evidence).
Lipodystrophy - childhood onset v0.11 LIPE Ivone Leong gene: LIPE was added
gene: LIPE was added to Lipodystrophy - childhood onset. Sources: Expert list,Expert Review
Mode of inheritance for gene: LIPE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIPE were set to 27862896
Phenotypes for gene: LIPE were set to Lipodystrophy, familial partial, type 6, 615980
Lipodystrophy - childhood onset v0.10 ADRA2A Ivone Leong gene: ADRA2A was added
gene: ADRA2A was added to Lipodystrophy - childhood onset. Sources: Expert list,Literature
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
Lipodystrophy - childhood onset v0.9 AKT2 Ivone Leong gene: AKT2 was added
gene: AKT2 was added to Lipodystrophy - childhood onset. Sources: Expert list
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853
Lipodystrophy - childhood onset v0.8 CIDEC Ivone Leong gene: CIDEC was added
gene: CIDEC was added to Lipodystrophy - childhood onset. Sources: Expert list
Mode of inheritance for gene: CIDEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIDEC were set to Lipodystrophy, familial partial, type 5, 615238
Lipodystrophy - childhood onset v0.7 PLIN1 Ellen McDonagh Classified gene: PLIN1 as Amber List (moderate evidence)
Lipodystrophy - childhood onset v0.7 PLIN1 Ellen McDonagh 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.
Lipodystrophy - childhood onset v0.7 PLIN1 Ellen McDonagh Gene: plin1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v0.6 PLIN1 Ellen McDonagh Publications for gene: PLIN1 were set to 21345103; 25114292
Lipodystrophy - childhood onset v0.3 ZMPSTE24 Sarah Leigh gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZMPSTE24 were set to 18435794; 16297189; 20034068; 12913070; 15317753
Phenotypes for gene: ZMPSTE24 were set to Mandibuloacral dysplasia with type B lipodystrophy, 608612
Lipodystrophy - childhood onset v0.3 PPARG Sarah Leigh gene: PPARG was added
gene: PPARG was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPARG were set to Insulin resistance, severe, digenic 604367; Lipodystrophy, familial partial, type 3 604367
Lipodystrophy - childhood onset v0.3 POLD1 Sarah Leigh gene: POLD1 was added
gene: POLD1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLD1 were set to 25131834; 26172944; 23770608
Phenotypes for gene: POLD1 were set to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
Lipodystrophy - childhood onset v0.3 PLIN1 Sarah Leigh gene: PLIN1 was added
gene: PLIN1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green
Mode of inheritance for gene: PLIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PLIN1 were set to 21345103; 25114292
Phenotypes for gene: PLIN1 were set to Lipodystrophy, familial partial, type 4, 613877
Lipodystrophy - childhood onset v0.3 LMNA Sarah Leigh gene: LMNA was added
gene: LMNA was added to Lipodystrophy - childhood onset. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Lipodystrophy, familial partial, 2, 151660
Lipodystrophy - childhood onset v0.3 BSCL2 Sarah Leigh gene: BSCL2 was added
gene: BSCL2 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Lipodystrophy, congenital generalized, type 2, 269700
Lipodystrophy - childhood onset v0.3 AGPAT2 Sarah Leigh gene: AGPAT2 was added
gene: AGPAT2 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPAT2 were set to Lipodystrophy, congenital generalized, type 1, 608594
Lipodystrophy - childhood onset v0.3 CAVIN1 Sarah Leigh gene: CAVIN1 was added
gene: CAVIN1 was added to Lipodystrophy - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green,Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAVIN1 were set to 19726876
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327
Lipodystrophy - childhood onset v0.1 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual
Lipodystrophy - childhood onset v0.0 Ellen McDonagh Added Panel Lipodystrophy - childhood onset
Set panel types to: GMS Rare Disease