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Intellectual disability v8.130 PSMC5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PSMC5.
Intellectual disability v8.97 PSMC5 Sarah Leigh Tag Q3_24_promote_green was removed from gene: PSMC5.
Intellectual disability v8.97 PSMC5 Sarah Leigh reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v8.97 PSMC5 Sarah Leigh Source NHS GMS was added to PSMC5.
Source Expert Review Green was added to PSMC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v7.39 PSMC5 Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.

This paper reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Intellectual disability v7.34 PSMC5 Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Intellectual disability v7.34 PSMC5 Achchuthan Shanmugasundram Classified gene: PSMC5 as Amber List (moderate evidence)
Intellectual disability v7.34 PSMC5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v7.34 PSMC5 Achchuthan Shanmugasundram Gene: psmc5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram changed review comment from: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and not mentioned in one).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.; to: PMID:38776958 reported seven unrelated individuals with four different heterozygous variants (three missense and one nonsense) presenting with a neurodevelopmental disorder. Intellectual disability was present in all cases with being severe in two, moderate in three, borderline in one and severity not reported in one).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram Phenotypes for gene: PSMC5 were changed from Developmental disorders to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.33 PSMC5 Achchuthan Shanmugasundram Publications for gene: PSMC5 were set to 33057194
Intellectual disability v7.32 PSMC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PSMC5.
Intellectual disability v7.32 PSMC5 Achchuthan Shanmugasundram reviewed gene: PSMC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 38776958; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v3.588 PSMC5 Ivone Leong Classified gene: PSMC5 as Amber List (moderate evidence)
Intellectual disability v3.588 PSMC5 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is not enough evidence to support a gene-disease association so this gene has been given an Amber rating.
Intellectual disability v3.588 PSMC5 Ivone Leong Gene: psmc5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v3.510 PSMC5 Zornitza Stark gene: PSMC5 was added
gene: PSMC5 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMC5 were set to 33057194
Phenotypes for gene: PSMC5 were set to Developmental disorders
Review for gene: PSMC5 was set to AMBER
Added comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 9 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating).
Sources: Literature