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Lipodystrophy - childhood onset v4.42 PSMA3 Achchuthan Shanmugasundram Classified gene: PSMA3 as Amber List (moderate evidence)
Lipodystrophy - childhood onset v4.42 PSMA3 Achchuthan Shanmugasundram Gene: psma3 has been classified as Amber List (Moderate Evidence).
Lipodystrophy - childhood onset v4.41 PSMA3 Achchuthan Shanmugasundram Publications for gene: PSMA3 were set to
Lipodystrophy - childhood onset v4.40 PSMA3 Achchuthan Shanmugasundram Tag digenic tag was added to gene: PSMA3.
Lipodystrophy - childhood onset v4.40 PSMA3 Achchuthan Shanmugasundram changed review comment from: PMID:26524591 - Two unrelated cases with heterozygous variants in PSMA3 and PSMB8 were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; to: PMID:26524591 - Two unrelated cases with heterozygous variants in PSMA3 and PSMB8 were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

The 'digenic' tag has been added as both reported cases had variants in PSMB8 in addition to PSMA3 variants.
Lipodystrophy - childhood onset v4.40 PSMA3 Achchuthan Shanmugasundram edited their review of gene: PSMA3: Added comment: PMID:26524591 - Two unrelated cases with heterozygous variants in PSMA3 and PSMB8 were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

This gene has not been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.; Changed rating: AMBER; Changed publications to: 26524591
Lipodystrophy - childhood onset v4.40 PSMA3 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations in PSMB4 or PSMB8 (PMID: 26524591, 34416217) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB8, PMSA3 PMID: 26524591). PSMB9 has also been implicated in digenic cases but this is in a single familes and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9. Only DIGENIC cases of CANDLES involving PSMA3 have been reported.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations in PSMB4 or PSMB8 (PMID: 26524591, 34416217) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB8, PMSA3 PMID: 26524591).

PSMB9 has also been implicated in digenic cases but this is in a single familes and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9. Only DIGENIC cases of CANDLES involving PSMA3 have been reported.
Lipodystrophy - childhood onset v4.40 PSMB8 Achchuthan Shanmugasundram changed review comment from: The 'digenic' tag has been added as there are two cases reported with heterozygous variants from both PSMB4 and PSMB8 in addition to patients with homozygous PSMB8 variants.; to: The 'digenic' tag has been added as there are four digenic cases reported (two cases each with heterozygous variants in PSMA3/ PSMB8 and PSMB4/ PSMB8) in addition to patients with homozygous PSMB8 variants.
Lipodystrophy - childhood onset v4.40 PSMB4 Achchuthan Shanmugasundram changed review comment from: PMID:26524591 - One case with compound heterozygous variants in PSMB4 (monogenic), two cases with heterozygous variants in PSMA3 and PSMB8 (digenic) and two cases with heterozygous variants in PSMB4 and PSMB8 (digenic) were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

PMID:34416217 - A boy with treatment-resistant cutaneous vasculitis was identified with novel heterozygous variants in PSMB4. This patient developed mild lipodystrophy after the successful second hematopoietic stem cell transplantation (HSCT).

This gene has been associated with PRAAS in OMIM and it includes lipodystrophy as one of the clinical manifestations.; to: PMID:26524591 - One case with compound heterozygous variants in PSMB4 (monogenic), two cases with heterozygous variants in PSMB4 and PSMB8 (digenic) and two cases with heterozygous variants in PSMB4 and PSMB9 (digenic) were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

PMID:34416217 - A boy with treatment-resistant cutaneous vasculitis was identified with novel heterozygous variants in PSMB4. This patient developed mild lipodystrophy after the successful second hematopoietic stem cell transplantation (HSCT).

This gene has been associated with PRAAS in OMIM and it includes lipodystrophy as one of the clinical manifestations.
Lipodystrophy - childhood onset v4.40 PSMB4 Achchuthan Shanmugasundram commented on gene: PSMB4: The 'digenic' tag has been added as there are four additional cases with heterozygous PSMB4 variants and heterozygous variants in either PSMA3 and PSMB8.
Lipodystrophy - childhood onset v4.37 PSMB4 Achchuthan Shanmugasundram edited their review of gene: PSMB4: Added comment: PMID:26524591 - One case with compound heterozygous variants in PSMB4 (monogenic), two cases with heterozygous variants in PSMA3 and PSMB8 (digenic) and two cases with heterozygous variants in PSMB4 and PSMB8 (digenic) were reported with proteasome-associated autoinflammatory syndrome (PRAAS) that includes lipodystrophy and lipid abnormalities. In addition, it was revealed from functional studies that these variants affect transcription, protein expression, protein folding, proteasome assembly, and, ultimately, proteasome activity.

PMID:34416217 - A boy with treatment-resistant cutaneous vasculitis was identified with novel heterozygous variants in PSMB4. This patient developed mild lipodystrophy after the successful second hematopoietic stem cell transplantation (HSCT).

This gene has been associated with PRAAS in OMIM and it includes lipodystrophy as one of the clinical manifestations.; Changed rating: GREEN; Changed publications to: 26524591, 34416217
Lipodystrophy - childhood onset v4.34 PSMB8 Achchuthan Shanmugasundram changed review comment from: This gene was added on recommendation of NHSE Genomic Medicine Service: These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations (PMID: 20534754, 21129723, 21953331) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB4, PSMA3)(PMID: 26524591). PSMB9 has also been implicated in digenic causes but these are in single kindreds and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9.; to: This gene was added on recommendation of NHSE Genomic Medicine Service:
These autoinflammatory syndromes include a lipodystrophy (partial and generalised have both been reported) and are caused either by biallelic loss of function mutations (PMID: 20534754, 21129723, 21953331) or by digenic heterozygous mutations in other proteasome encoding genes (PSMB4, PSMA3)(PMID: 26524591).

PSMB9 has also been implicated in digenic causes but these are in single kindreds and lipodystrophy is not reported in the autoinflammatory syndrome of carriers of biallelic loss of function mutations in PSMB9.
Lipodystrophy - childhood onset v4.3 PSMA3 Achchuthan Shanmugasundram reviewed gene: PSMA3: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Lipodystrophy - childhood onset v4.2 PSMA3 Achchuthan Shanmugasundram gene: PSMA3 was added
gene: PSMA3 was added to Lipodystrophy - childhood onset. Sources: Expert list,NHS GMS
Mode of inheritance for gene: PSMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMA3 were set to Proteasome associated autoinflammatory syndrome-1, CANDLES (Chronic, atypical, neutrophillic dermatosis with lipodystrophy and elevated temperature syndrome), Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome)