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Lipodystrophy_Lipoatrophy v1.17 EPHX1 Ain Roesley Classified gene: EPHX1 as Green List (high evidence)
Lipodystrophy_Lipoatrophy v1.17 EPHX1 Ain Roesley Gene: ephx1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.16 EPHX1 Lauren Rogers reviewed gene: EPHX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v1.16 SUPT7L Zornitza Stark Marked gene: SUPT7L as ready
Lipodystrophy_Lipoatrophy v1.16 SUPT7L Zornitza Stark Gene: supt7l has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.16 SUPT7L Zornitza Stark Phenotypes for gene: SUPT7L were changed from lipodystrophy, MONDO:0006573 to lipodystrophy, MONDO:0006573, SUPT7L-related
Lipodystrophy_Lipoatrophy v1.15 SUPT7L Chirag Patel gene: SUPT7L was added
gene: SUPT7L was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: SUPT7L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPT7L were set to PMID: 38592547
Phenotypes for gene: SUPT7L were set to lipodystrophy, MONDO:0006573
Review for gene: SUPT7L was set to RED
Added comment: 1 case with generalised lipodystrophy, growth retardation, congenital cataracts, severe developmental delay and progeriod features. Trio WGS identified compound heterozygous variants in SUPT7L (missense causing abnormal splicing + frameshift). Variants validated with Sanger. SUPT7L encodes a component of the core structural module of the STAGA complex - a nuclear multifunctional protein complex that plays a role in various cellular processes (e.g. transcription factor binding, protein acetylation, splicing, and DNA damage control). Immunolabelling in fibroblasts from patient showed complete absence of SUPT7L protein. Transcriptome data from individual revealed downregulation of several gene sets associated with DNA replication, DNA repair, cell cycle, and transcription.
Sources: Literature
Lipodystrophy_Lipoatrophy v1.14 PLA2G16 Zornitza Stark Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573), PLA2G16-related to Lipodystrophy, familial partial, type 9, MIM# 620683
Lipodystrophy_Lipoatrophy v1.13 PLA2G16 Zornitza Stark edited their review of gene: PLA2G16: Changed rating: GREEN; Changed phenotypes: Lipodystrophy, familial partial, type 9, MIM# 620683; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.13 PCYT1A Zornitza Stark Phenotypes for gene: PCYT1A were changed from Congenital lipodystrophy; fatty liver disease to Lipodystrophy, congenital generalized, type 5, MIM# 620680
Lipodystrophy_Lipoatrophy v1.12 PCYT1A Zornitza Stark edited their review of gene: PCYT1A: Changed phenotypes: Lipodystrophy, congenital generalized, type 5, MIM# 620680
Lipodystrophy_Lipoatrophy v1.12 PLA2G16 Zornitza Stark Marked gene: PLA2G16 as ready
Lipodystrophy_Lipoatrophy v1.12 PLA2G16 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is PLAAT3
Lipodystrophy_Lipoatrophy v1.12 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.12 PLA2G16 Zornitza Stark Tag new gene name tag was added to gene: PLA2G16.
Lipodystrophy_Lipoatrophy v1.12 PLA2G16 Zornitza Stark Marked gene: PLA2G16 as ready
Lipodystrophy_Lipoatrophy v1.12 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.12 PLA2G16 Zornitza Stark Phenotypes for gene: PLA2G16 were changed from Lipodystrophy (MONDO:0006573) to Lipodystrophy (MONDO:0006573), PLA2G16-related
Lipodystrophy_Lipoatrophy v1.11 PLA2G16 Zornitza Stark Mode of inheritance for gene: PLA2G16 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.10 PLA2G16 Zornitza Stark Classified gene: PLA2G16 as Green List (high evidence)
Lipodystrophy_Lipoatrophy v1.10 PLA2G16 Zornitza Stark Gene: pla2g16 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.9 PLA2G16 Lauren Rogers edited their review of gene: PLA2G16: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v1.9 PLA2G16 Lauren Rogers gene: PLA2G16 was added
gene: PLA2G16 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: PLA2G16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLA2G16 were set to PMID: 37919452
Phenotypes for gene: PLA2G16 were set to Lipodystrophy (MONDO:0006573)
Review for gene: PLA2G16 was set to GREEN
Added comment: 7 patients from 4 unrelated consanguineous families with homozygous loss of function PTC variants. Features: 4/7 metabolic features, 6/7 neurological/skeletal features, 3/7 Psychomotor retardation/intellectual disability, 5/7 demyelinating peripheral neuropathy.

Null mouse and patient derived white adipose tissue showed enrichment of arachidonic acid-containing membrane phospholipids and a strong decrease in PPARγ. CRISPR–Cas9-mediated PLAAT3 inactivation in human adipose stem cells induced insulin resistance, altered adipocyte differentiation with decreased lipid droplet formation and reduced the expression of adipogenic and mature adipocyte markers, including PPARγ.
Sources: Literature
Lipodystrophy_Lipoatrophy v1.9 EPHX1 Zornitza Stark Phenotypes for gene: EPHX1 were changed from Lipoatrophic diabetes to Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Lipodystrophy_Lipoatrophy v1.8 EPHX1 Zornitza Stark edited their review of gene: EPHX1: Changed phenotypes: Hereditary lipodystrophy, MONDO:0020087, EPHX1-related
Lipodystrophy_Lipoatrophy v1.8 Zornitza Stark HPO terms changed from to Lipodystrophy, HP:0009125
List of related panels changed from to Lipodystrophy; HP:0009125
Lipodystrophy_Lipoatrophy v1.7 CAVIN1 Zornitza Stark Tag treatable tag was added to gene: CAVIN1.
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung changed review comment from: 5 unrelated individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13.

Individuals from two Algerian families.
Sources: Literature; to: 5 individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13.

Individuals from only two Algerian families.
Sources: Literature
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Marked gene: BUD13 as ready
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Classified gene: BUD13 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v1.7 BUD13 Alison Yeung Gene: bud13 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.6 BUD13 Alison Yeung gene: BUD13 was added
gene: BUD13 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: BUD13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BUD13 were set to 35670808
Phenotypes for gene: BUD13 were set to Lipodystrophy, MONDO:0006573
Review for gene: BUD13 was set to AMBER
Added comment: 5 unrelated individuals with a lipodystrophy phenotype with a typical facial appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Although 3 individuals showed stunted growth, intellectual disability, and died within the first decade of life, 2 are adults with normal intellectual development. All individuals harbored an identical homozygous nonsense variant affecting the retention and splicing complex component BUD13.

Individuals from two Algerian families.
Sources: Literature
Lipodystrophy_Lipoatrophy v1.5 PRIM1 Zornitza Stark Marked gene: PRIM1 as ready
Lipodystrophy_Lipoatrophy v1.5 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.5 PRIM1 Zornitza Stark Classified gene: PRIM1 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v1.5 PRIM1 Zornitza Stark Gene: prim1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.4 PRIM1 Zornitza Stark gene: PRIM1 was added
gene: PRIM1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRIM1 were set to 33060134
Phenotypes for gene: PRIM1 were set to Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, MIM# 620005
Review for gene: PRIM1 was set to AMBER
Added comment: - PMID: 33060134 (2020) - From a cohort of 220 families with microcephalic dwarfism spectrum disorders (OFC ≤−4 SD; height ≤−2 SD), three families (4 individuals) were identified with the same homozygous intronic variant (c.638+36C>G) in PRIM1. This variant was present in gnomAD in 2 individuals across all populations, but only in a heterozygous state. Haplotype analysis indicated that all three families share a distant common ancestor - i.e. confirmed founder variant.
Authors subsequently identified a single individual with compound heterozygous PRIM1 variants (c.103+1G>T, c.901T>C) from the DDD study, who also presented microcephaly and short stature (OFC ≤−3 SD; height ≤−3 SD).

Clinical overlap was evident in all 5 individuals, presenting extreme pre- and postnatal growth restriction, severe microcephaly (OFC −6.0 ± 1.5 SD) with simplified gyri appearance, hypothyroidism, hypo/agammaglobulinaemia, and lymphopaenia accompanied by intermittent anaemia/thrombocytopaenia. All had chronic respiratory symptoms, and four died in early childhood from respiratory or GI infections.

Lipodystrophy was part of the phenotype.

Functional studies demonstrated reduced PRIM1 protein levels, replication fork defects and prolonged S-phase duration in PRIM1-deficient cells. The resulting delay to the cell cycle and inability to sustain sufficient cell proliferation provides a likely mechanism for the presenting phenotype.
Sources: Literature
Lipodystrophy_Lipoatrophy v1.3 EPHX1 Zornitza Stark Marked gene: EPHX1 as ready
Lipodystrophy_Lipoatrophy v1.3 EPHX1 Zornitza Stark Gene: ephx1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.3 EPHX1 Zornitza Stark Classified gene: EPHX1 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v1.3 EPHX1 Zornitza Stark Gene: ephx1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v1.2 EPHX1 Zornitza Stark gene: EPHX1 was added
gene: EPHX1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: EPHX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EPHX1 were set to 34342583
Phenotypes for gene: EPHX1 were set to Lipoatrophic diabetes
Review for gene: EPHX1 was set to AMBER
Added comment: Two individuals reported with de novo variants in this gene and lipoatrophic diabetes characterized by loss of adipose tissue, insulin resistance, and multiple organ dysfunction. CRISPR-Cas9-mediated EPHX1 knockout (KO) abolished adipocyte differentiation and decreased insulin response. This KO also promoted oxidative stress and cellular senescence, an observation confirmed in patient-derived fibroblasts.
Sources: Literature
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark Marked gene: MCM7 as ready
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark Gene: mcm7 has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v1.1 MCM7 Zornitza Stark gene: MCM7 was added
gene: MCM7 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: MCM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCM7 were set to 33654309; 34059554
Phenotypes for gene: MCM7 were set to Meier-Gorlin syndrome; Microcephaly; Intellectual disability; Lipodystrophy; Adrenal insufficiency
Review for gene: MCM7 was set to RED
Added comment: MCM7 is a component of the MCM complex, a DNA helicase which is essential for DNA replication. Other components have been linked to disease with phenotypes including microcephaly and ID. MCM7 is not associated with any phenotype in OMIM or G2P at present. ------ Currently there are 3 unrelated pedigrees in literature with different biallelic MCM7 variants associated with disease (see below). Although there is some functional data in support of variant-level deleteriousness or gene-level pathogenicity, the clinical gestalt is very different between the 3 families.

- PMID: 33654309 (2021) - Two unrelated individuals with different compound het variants in MCM7 but disparate clinical features. One patient had typical Meier-Gorlin syndrome (including growth retardation, microcephaly, congenital lung emphysema, absent breast development, microtia, facial dysmorphism) whereas the second case had a multi-system disorder with neonatal progeroid appearance, lipodystrophy and adrenal insufficiency. While small at birth, the second patient did not demonstrate reduced stature or microcephaly at age 14.5 years. Both individuals had normal neurodevelopment. Functional studies using patient-derived fibroblasts demonstrate that the identified MCM7 variants were deleterious at either transcript or protein levels and through interfering with MCM complex formation, impact efficiency of S phase progression.

- PMID: 34059554 (2021) - Homozygous missense variant identified in three affected individuals from a consanguineous family with severe primary microcephaly, severe ID and behavioural abnormalities. Knockdown of Mcm7 in mouse neuroblastoma cells lead to reduced cell viability and proliferation with increased apoptosis, which were rescued by overexpression of wild-type but not mutant MCM7.
Sources: Literature
Lipodystrophy_Lipoatrophy v1.0 Zornitza Stark promoted panel to version 1.0
Lipodystrophy_Lipoatrophy v0.90 WRN Zornitza Stark Marked gene: WRN as ready
Lipodystrophy_Lipoatrophy v0.90 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.90 WRN Zornitza Stark Phenotypes for gene: WRN were changed from to Werner syndrome, MIM# 277700; MONDO:0010196
Lipodystrophy_Lipoatrophy v0.89 WRN Zornitza Stark Publications for gene: WRN were set to
Lipodystrophy_Lipoatrophy v0.88 WRN Zornitza Stark Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.87 WRN Zornitza Stark reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Werner syndrome, MIM# 277700, MONDO:0010196; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.87 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Lipodystrophy_Lipoatrophy v0.87 SPRTN Zornitza Stark Gene: sprtn has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.87 SPRTN Zornitza Stark Publications for gene: SPRTN were set to
Lipodystrophy_Lipoatrophy v0.86 SPRTN Zornitza Stark Mode of inheritance for gene: SPRTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.85 SPRTN Zornitza Stark Phenotypes for gene: SPRTN were changed from to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527
Lipodystrophy_Lipoatrophy v0.84 SPRTN Zornitza Stark Classified gene: SPRTN as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.84 SPRTN Zornitza Stark Gene: sprtn has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.83 SPRTN Zornitza Stark reviewed gene: SPRTN: Rating: AMBER; Mode of pathogenicity: None; Publications: 25261934; Phenotypes: Ruijs-Aalfs syndrome, MIM# 616200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.83 PSMB8 Zornitza Stark changed review comment from: This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia.

This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE).

More than 10 molecularly confirmed cases reported.

Digenic inheritance has been proposed in some individuals with variants in other PSMB genes.; to: This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anaemia.

This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anaemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE).

More than 10 molecularly confirmed cases reported.

Digenic inheritance has been proposed in some individuals with variants in other PSMB genes.
Lipodystrophy_Lipoatrophy v0.83 PSMB8 Zornitza Stark Marked gene: PSMB8 as ready
Lipodystrophy_Lipoatrophy v0.83 PSMB8 Zornitza Stark Gene: psmb8 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.83 PSMB8 Zornitza Stark Phenotypes for gene: PSMB8 were changed from to Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; MONDO:0054698
Lipodystrophy_Lipoatrophy v0.82 PSMB8 Zornitza Stark Publications for gene: PSMB8 were set to
Lipodystrophy_Lipoatrophy v0.81 PSMB8 Zornitza Stark Mode of inheritance for gene: PSMB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.80 PSMB8 Zornitza Stark reviewed gene: PSMB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129723, 21881205, 21852578, 21953331; Phenotypes: Proteasome-associated autoinflammatory syndrome 1, MIM# 256040; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.79 PPARG Zornitza Stark Marked gene: PPARG as ready
Lipodystrophy_Lipoatrophy v0.79 PPARG Zornitza Stark Gene: pparg has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.79 PPARG Zornitza Stark Phenotypes for gene: PPARG were changed from to Lipodystrophy, familial partial, type 3, MIM# 604367; MONDO:0011448
Lipodystrophy_Lipoatrophy v0.78 PPARG Zornitza Stark Publications for gene: PPARG were set to
Lipodystrophy_Lipoatrophy v0.77 PPARG Zornitza Stark Mode of inheritance for gene: PPARG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.76 PPARG Zornitza Stark reviewed gene: PPARG: Rating: GREEN; Mode of pathogenicity: None; Publications: 10622252, 12453919, 11788685, 31863320; Phenotypes: Lipodystrophy, familial partial, type 3, MIM# 604367; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.76 POLD1 Zornitza Stark Marked gene: POLD1 as ready
Lipodystrophy_Lipoatrophy v0.76 POLD1 Zornitza Stark Gene: pold1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.76 POLD1 Zornitza Stark Phenotypes for gene: POLD1 were changed from to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381; MONDO:0014157
Lipodystrophy_Lipoatrophy v0.75 POLD1 Zornitza Stark Publications for gene: POLD1 were set to
Lipodystrophy_Lipoatrophy v0.74 POLD1 Zornitza Stark Mode of inheritance for gene: POLD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.73 POLD1 Zornitza Stark reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23770608, 33618333, 33369179, 32826474, 30023403, 29199204, 28791128; Phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, MIM# 615381, MONDO:0014157; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.73 PLIN1 Zornitza Stark Marked gene: PLIN1 as ready
Lipodystrophy_Lipoatrophy v0.73 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.73 PLIN1 Zornitza Stark Phenotypes for gene: PLIN1 were changed from to Lipodystrophy, familial partial, type 4, MIM# 613877
Lipodystrophy_Lipoatrophy v0.72 PLIN1 Zornitza Stark Publications for gene: PLIN1 were set to
Lipodystrophy_Lipoatrophy v0.71 PLIN1 Zornitza Stark Mode of inheritance for gene: PLIN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.70 PLIN1 Zornitza Stark Classified gene: PLIN1 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.70 PLIN1 Zornitza Stark Gene: plin1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.69 PLIN1 Zornitza Stark Tag disputed tag was added to gene: PLIN1.
Lipodystrophy_Lipoatrophy v0.69 PLIN1 Zornitza Stark reviewed gene: PLIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345103, 31504636, 30020498, 25114292; Phenotypes: Lipodystrophy, familial partial, type 4, MIM# 613877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.69 PIK3R1 Zornitza Stark Marked gene: PIK3R1 as ready
Lipodystrophy_Lipoatrophy v0.69 PIK3R1 Zornitza Stark Gene: pik3r1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.69 PIK3R1 Zornitza Stark Phenotypes for gene: PIK3R1 were changed from to SHORT syndrome, MIM# 269880; Lipodystrophy; insulin resistance
Lipodystrophy_Lipoatrophy v0.68 PIK3R1 Zornitza Stark Publications for gene: PIK3R1 were set to
Lipodystrophy_Lipoatrophy v0.67 PIK3R1 Zornitza Stark Mode of inheritance for gene: PIK3R1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.66 PIK3R1 Zornitza Stark edited their review of gene: PIK3R1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.66 PIK3R1 Zornitza Stark edited their review of gene: PIK3R1: Changed rating: GREEN
Lipodystrophy_Lipoatrophy v0.66 PIK3R1 Zornitza Stark reviewed gene: PIK3R1: Rating: ; Mode of pathogenicity: None; Publications: 32439336, 28472977, 26974159, 24886349, 24830046; Phenotypes: SHORT syndrome, MIM# 269880, Lipodystrophy, insulin resistance; Mode of inheritance: None
Lipodystrophy_Lipoatrophy v0.65 PCYT1A Zornitza Stark edited their review of gene: PCYT1A: Changed publications: 24889630
Lipodystrophy_Lipoatrophy v0.65 PCYT1A Zornitza Stark Marked gene: PCYT1A as ready
Lipodystrophy_Lipoatrophy v0.65 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.65 PCYT1A Zornitza Stark Phenotypes for gene: PCYT1A were changed from to Congenital lipodystrophy; fatty liver disease
Lipodystrophy_Lipoatrophy v0.64 PCYT1A Zornitza Stark Publications for gene: PCYT1A were set to
Lipodystrophy_Lipoatrophy v0.63 PCYT1A Zornitza Stark Mode of inheritance for gene: PCYT1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.62 PCYT1A Zornitza Stark Classified gene: PCYT1A as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.62 PCYT1A Zornitza Stark Gene: pcyt1a has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.61 PCYT1A Zornitza Stark reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital lipodystrophy, fatty liver disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.61 LMNA Zornitza Stark Marked gene: LMNA as ready
Lipodystrophy_Lipoatrophy v0.61 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.61 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Lipodystrophy, familial partial, type 2, MIM# 151660
Lipodystrophy_Lipoatrophy v0.60 LMNA Zornitza Stark Publications for gene: LMNA were set to
Lipodystrophy_Lipoatrophy v0.59 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.58 LMNA Zornitza Stark reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10587585, 10655060; Phenotypes: Lipodystrophy, familial partial, type 2, MIM# 151660; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.58 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to 25620207
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark changed review comment from: 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.

Three unrelated individuals reported with de novo variants in this gene (one recurred in 2), mouse model.; to: 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.
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark edited their review of gene: KCNJ6: Changed publications: 25620207, 29852244
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark Marked gene: KCNJ6 as ready
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark Gene: kcnj6 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.57 KCNJ6 Zornitza Stark Phenotypes for gene: KCNJ6 were changed from to Keppen-Lubinsky syndrome, MIM# 614098; MONDO:0013572
Lipodystrophy_Lipoatrophy v0.56 KCNJ6 Zornitza Stark Publications for gene: KCNJ6 were set to
Lipodystrophy_Lipoatrophy v0.55 KCNJ6 Zornitza Stark Mode of inheritance for gene: KCNJ6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.54 KCNJ6 Zornitza Stark edited their review of gene: KCNJ6: Changed phenotypes: Keppen-Lubinsky syndrome, MIM# 614098, MONDO:0013572
Lipodystrophy_Lipoatrophy v0.54 KCNJ6 Zornitza Stark reviewed gene: KCNJ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25620207; Phenotypes: Keppen-Lubinsky syndrome, MIM# 614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.54 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Lipodystrophy_Lipoatrophy v0.54 FBN1 Zornitza Stark Gene: fbn1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.54 FBN1 Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan lipodystrophy syndrome, MIM# 616914
Lipodystrophy_Lipoatrophy v0.53 FBN1 Zornitza Stark Publications for gene: FBN1 were set to 20979188; 21594992; 21594993; 24613577; 26860060; 29666143
Lipodystrophy_Lipoatrophy v0.53 FBN1 Zornitza Stark Publications for gene: FBN1 were set to
Lipodystrophy_Lipoatrophy v0.52 FBN1 Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.51 FBN1 Zornitza Stark reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20979188, 21594992, 21594993, 24613577, 26860060, 29666143; Phenotypes: Marfan lipodystrophy syndrome, MIM# 616914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.51 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Lipodystrophy_Lipoatrophy v0.51 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.51 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type B, MIM# 133540
Lipodystrophy_Lipoatrophy v0.50 ERCC8 Zornitza Stark Publications for gene: ERCC8 were set to
Lipodystrophy_Lipoatrophy v0.49 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.48 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Cockayne syndrome, type B, MIM# 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.48 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Lipodystrophy_Lipoatrophy v0.48 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.48 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM# 133540
Lipodystrophy_Lipoatrophy v0.47 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Lipodystrophy_Lipoatrophy v0.46 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.45 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Cockayne syndrome, type B, MIM# 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.45 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Lipodystrophy_Lipoatrophy v0.44 CIDEC Zornitza Stark Marked gene: CIDEC as ready
Lipodystrophy_Lipoatrophy v0.44 CIDEC Zornitza Stark Gene: cidec has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v0.44 CIDEC Zornitza Stark Phenotypes for gene: CIDEC were changed from to Lipodystrophy, familial partial, type 5, MIM# 615238
Lipodystrophy_Lipoatrophy v0.43 CIDEC Zornitza Stark Publications for gene: CIDEC were set to
Lipodystrophy_Lipoatrophy v0.42 CIDEC Zornitza Stark Mode of inheritance for gene: CIDEC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.41 CIDEC Zornitza Stark Classified gene: CIDEC as Red List (low evidence)
Lipodystrophy_Lipoatrophy v0.41 CIDEC Zornitza Stark Gene: cidec has been classified as Red List (Low Evidence).
Lipodystrophy_Lipoatrophy v0.40 CIDEC Zornitza Stark reviewed gene: CIDEC: Rating: RED; Mode of pathogenicity: None; Publications: 20049731; Phenotypes: Lipodystrophy, familial partial, type 5, MIM# 615238; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.40 CAVIN1 Zornitza Stark Marked gene: CAVIN1 as ready
Lipodystrophy_Lipoatrophy v0.40 CAVIN1 Zornitza Stark Gene: cavin1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.40 CAVIN1 Zornitza Stark Phenotypes for gene: CAVIN1 were changed from to Lipodystrophy, congenital generalized, type 4, MIM# 613327; MONDO:0013225
Lipodystrophy_Lipoatrophy v0.39 CAVIN1 Zornitza Stark Publications for gene: CAVIN1 were set to
Lipodystrophy_Lipoatrophy v0.38 CAVIN1 Zornitza Stark Mode of inheritance for gene: CAVIN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.37 CAVIN1 Zornitza Stark reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327, MONDO:0013225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.37 CAV1 Zornitza Stark Marked gene: CAV1 as ready
Lipodystrophy_Lipoatrophy v0.37 CAV1 Zornitza Stark Gene: cav1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.37 CAV1 Zornitza Stark Phenotypes for gene: CAV1 were changed from to Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721; Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526
Lipodystrophy_Lipoatrophy v0.36 CAV1 Zornitza Stark Publications for gene: CAV1 were set to
Lipodystrophy_Lipoatrophy v0.35 CAV1 Zornitza Stark Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.34 CAV1 Zornitza Stark reviewed gene: CAV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18237401, 25898808, 11739396, 18211975, 27717241, 26176221; Phenotypes: Lipodystrophy, familial partial, type 7, autosomal dominant MIM# 606721, Lipodystrophy, congenital generalized, type 3, autosomal recessive, MIM# 612526; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.34 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Lipodystrophy_Lipoatrophy v0.34 BSCL2 Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.34 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from to Lipodystrophy, congenital generalized, type 2, MIM# 269700; MONDO:0010020; Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924; MONDO:0014402
Lipodystrophy_Lipoatrophy v0.33 BSCL2 Zornitza Stark Publications for gene: BSCL2 were set to
Lipodystrophy_Lipoatrophy v0.32 BSCL2 Zornitza Stark Mode of inheritance for gene: BSCL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.31 BSCL2 Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479539, 15181077, 15126564, 23564749; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700, MONDO:0010020, Encephalopathy, progressive, with or without lipodystrophy, MIM# 615924, MONDO:0014402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.31 BLM Zornitza Stark Marked gene: BLM as ready
Lipodystrophy_Lipoatrophy v0.31 BLM Zornitza Stark Gene: blm has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.31 BLM Zornitza Stark Phenotypes for gene: BLM were changed from to Bloom syndrome, MIM# 210900
Lipodystrophy_Lipoatrophy v0.30 BLM Zornitza Stark Publications for gene: BLM were set to
Lipodystrophy_Lipoatrophy v0.29 BLM Zornitza Stark Mode of inheritance for gene: BLM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.28 BLM Zornitza Stark reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28476236; Phenotypes: Bloom syndrome, MIM# 210900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.28 ZMPSTE24 Zornitza Stark Marked gene: ZMPSTE24 as ready
Lipodystrophy_Lipoatrophy v0.28 ZMPSTE24 Zornitza Stark Gene: zmpste24 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.28 ZMPSTE24 Zornitza Stark Phenotypes for gene: ZMPSTE24 were changed from to Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612; MONDO:0012074
Lipodystrophy_Lipoatrophy v0.27 ZMPSTE24 Zornitza Stark Publications for gene: ZMPSTE24 were set to
Lipodystrophy_Lipoatrophy v0.26 ZMPSTE24 Zornitza Stark Mode of inheritance for gene: ZMPSTE24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.25 ZMPSTE24 Zornitza Stark edited their review of gene: ZMPSTE24: Changed publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998
Lipodystrophy_Lipoatrophy v0.25 ZMPSTE24 Zornitza Stark reviewed gene: ZMPSTE24: Rating: GREEN; Mode of pathogenicity: None; Publications: 11923874, 22718200, 29794150, 29208544, 12913070, 27410998, 27409638; Phenotypes: Mandibuloacral dysplasia with type B lipodystrophy, MIM# 608612, MONDO:0012074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.25 BANF1 Zornitza Stark Marked gene: BANF1 as ready
Lipodystrophy_Lipoatrophy v0.25 BANF1 Zornitza Stark Gene: banf1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.25 BANF1 Zornitza Stark Phenotypes for gene: BANF1 were changed from to Nestor-Guillermo progeria syndrome, MIM# 614008
Lipodystrophy_Lipoatrophy v0.24 BANF1 Zornitza Stark Publications for gene: BANF1 were set to
Lipodystrophy_Lipoatrophy v0.23 BANF1 Zornitza Stark Mode of inheritance for gene: BANF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.22 BANF1 Zornitza Stark Classified gene: BANF1 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.22 BANF1 Zornitza Stark Gene: banf1 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.21 BANF1 Zornitza Stark reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 32783369, 21549337; Phenotypes: Nestor-Guillermo progeria syndrome, MIM# 614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.21 AKT2 Zornitza Stark Marked gene: AKT2 as ready
Lipodystrophy_Lipoatrophy v0.21 AKT2 Zornitza Stark Gene: akt2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.21 AKT2 Zornitza Stark Phenotypes for gene: AKT2 were changed from to Hypoinsulinemic hypoglycemia with hemihypertrophy 240900
Lipodystrophy_Lipoatrophy v0.20 AKT2 Zornitza Stark Publications for gene: AKT2 were set to
Lipodystrophy_Lipoatrophy v0.19 AKT2 Zornitza Stark Mode of inheritance for gene: AKT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.18 AKT2 Zornitza Stark reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27408773, 21979934]; Phenotypes: Hypoinsulinemic hypoglycemia with hemihypertrophy 240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Marked gene: AGPAT2 as ready
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Gene: agpat2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.18 AGPAT2 Zornitza Stark Phenotypes for gene: AGPAT2 were changed from to Lipodystrophy, congenital generalized, type 1, MIM# 608594
Lipodystrophy_Lipoatrophy v0.17 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to 32876150; 11967537
Lipodystrophy_Lipoatrophy v0.17 AGPAT2 Zornitza Stark Publications for gene: AGPAT2 were set to
Lipodystrophy_Lipoatrophy v0.16 AGPAT2 Zornitza Stark Mode of inheritance for gene: AGPAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.15 AGPAT2 Zornitza Stark reviewed gene: AGPAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32876150, 11967537; Phenotypes: Lipodystrophy, congenital generalized, type 1, MIM# 608594; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.15 MTX2 Zornitza Stark Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127; Mandibuloacral dysplasia; lipodystrophy; arterial calcification
Lipodystrophy_Lipoatrophy v0.14 MTX2 Zornitza Stark edited their review of gene: MTX2: Changed phenotypes: Mandibuloacral dysplasia progeroid syndrome, MIM# 619127, Mandibuloacral dysplasia, lipodystrophy, arterial calcification
Lipodystrophy_Lipoatrophy v0.14 OTULIN Zornitza Stark Marked gene: OTULIN as ready
Lipodystrophy_Lipoatrophy v0.14 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.14 OTULIN Zornitza Stark Classified gene: OTULIN as Green List (high evidence)
Lipodystrophy_Lipoatrophy v0.14 OTULIN Zornitza Stark Gene: otulin has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.13 OTULIN Zornitza Stark gene: OTULIN was added
gene: OTULIN was added to Lipodystrophy_Lipoatrophy. Sources: Expert list
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
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 list
Lipodystrophy_Lipoatrophy v0.12 PSMB4 Zornitza Stark Marked gene: PSMB4 as ready
Lipodystrophy_Lipoatrophy v0.12 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.12 PSMB4 Zornitza Stark Classified gene: PSMB4 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.12 PSMB4 Zornitza Stark Gene: psmb4 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.11 PSMB4 Zornitza Stark gene: PSMB4 was added
gene: PSMB4 was added to Lipodystrophy_Lipoatrophy. Sources: Expert list
Mode of inheritance for gene: PSMB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMB4 were set to 26524591
Phenotypes for gene: PSMB4 were set to Proteasome-associated autoinflammatory syndrome 3 and digenic forms, MIM# 617591
Review for gene: PSMB4 was set to AMBER
Added comment: Proteasome-associated autoinflammatory syndrome-3 is an autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. Additional features are highly variable, but may include joint contractures, hepatosplenomegaly, anaemia, thrombocytopaenia, recurrent infections, autoantibodies, and hypergammaglobulinaemia. Some may have intracranial calcifications.

One individual with bi-allelic variants, and two others with mono-allelic variants in PSMB4 as well as variants in PSMB9 or PSMB8, digenic model proposed.
Sources: Expert list
Lipodystrophy_Lipoatrophy v0.10 LMNB2 Zornitza Stark Marked gene: LMNB2 as ready
Lipodystrophy_Lipoatrophy v0.10 LMNB2 Zornitza Stark Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.10 LMNB2 Zornitza Stark Phenotypes for gene: LMNB2 were changed from to {Lipodystrophy, partial, acquired, susceptibility to} 608709
Lipodystrophy_Lipoatrophy v0.9 LMNB2 Zornitza Stark Publications for gene: LMNB2 were set to
Lipodystrophy_Lipoatrophy v0.8 LMNB2 Zornitza Stark Mode of inheritance for gene: LMNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.7 LMNB2 Zornitza Stark Classified gene: LMNB2 as Amber List (moderate evidence)
Lipodystrophy_Lipoatrophy v0.7 LMNB2 Zornitza Stark Gene: lmnb2 has been classified as Amber List (Moderate Evidence).
Lipodystrophy_Lipoatrophy v0.6 LMNB2 Zornitza Stark reviewed gene: LMNB2: Rating: AMBER; Mode of pathogenicity: None; Publications: 16826530, 22768673; Phenotypes: {Lipodystrophy, partial, acquired, susceptibility to} 608709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Lipodystrophy_Lipoatrophy v0.6 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Lipodystrophy_Lipoatrophy v0.6 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.6 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Lipodystrophy_Lipoatrophy v0.6 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.5 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Lipodystrophy_Lipoatrophy. 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_Lipoatrophy v0.4 LIPE Zornitza Stark Marked gene: LIPE as ready
Lipodystrophy_Lipoatrophy v0.4 LIPE Zornitza Stark Gene: lipe has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v0.4 LIPE Zornitza Stark Phenotypes for gene: LIPE were changed from to Lipodystrophy, familial partial, type 6, 615980
Lipodystrophy_Lipoatrophy v0.3 LIPE Zornitza Stark Publications for gene: LIPE were set to
Lipodystrophy_Lipoatrophy v0.2 LIPE Zornitza Stark Mode of inheritance for gene: LIPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.1 LIPE Kristin Rigbye changed review comment from: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.; to: LIPE is confirmed to be associated to partial familial lipodystrophy in OMIM.
There are 3 unrelated cases of patients with partial lipodystrophy with different loss of function variants in the LIPE gene.
Lipodystrophy_Lipoatrophy v0.1 LIPE Kristin Rigbye reviewed gene: LIPE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27862896, 25475467, 24848981; Phenotypes: Lipodystrophy, familial partial, type 6, 615980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy_Lipoatrophy v0.1 Zornitza Stark Panel name changed from Lipodystrophy / Lipoatrophy_VCGS to Lipodystrophy_Lipoatrophy
Panel types changed to Victorian Clinical Genetics Services
Lipodystrophy_Lipoatrophy v0.0 ZMPSTE24 Zornitza Stark gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ZMPSTE24 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 WRN Zornitza Stark gene: WRN was added
gene: WRN was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WRN was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 SPRTN Zornitza Stark gene: SPRTN was added
gene: SPRTN was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPRTN was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PSMB8 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 PPARG Zornitza Stark gene: PPARG was added
gene: PPARG was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PPARG was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 POLD1 Zornitza Stark gene: POLD1 was added
gene: POLD1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: POLD1 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 PLIN1 Zornitza Stark gene: PLIN1 was added
gene: PLIN1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLIN1 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 PIK3R1 Zornitza Stark gene: PIK3R1 was added
gene: PIK3R1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PIK3R1 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PCYT1A was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 LMNB2 Zornitza Stark gene: LMNB2 was added
gene: LMNB2 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNB2 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNA was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 LIPE Zornitza Stark gene: LIPE was added
gene: LIPE was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LIPE was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 KCNJ6 Zornitza Stark gene: KCNJ6 was added
gene: KCNJ6 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KCNJ6 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: FBN1 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC8 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ERCC6 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 CIDEC Zornitza Stark gene: CIDEC was added
gene: CIDEC was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CIDEC was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CAVIN1 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 CAV1 Zornitza Stark gene: CAV1 was added
gene: CAV1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CAV1 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BSCL2 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BLM was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 BANF1 Zornitza Stark gene: BANF1 was added
gene: BANF1 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BANF1 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 AKT2 Zornitza Stark gene: AKT2 was added
gene: AKT2 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AKT2 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 AGPAT2 Zornitza Stark gene: AGPAT2 was added
gene: AGPAT2 was added to Lipodystrophy / Lipoatrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AGPAT2 was set to Unknown
Lipodystrophy_Lipoatrophy v0.0 Zornitza Stark Added panel Lipodystrophy / Lipoatrophy_VCGS