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Intellectual disability v9.229 PRMT9 Achchuthan Shanmugasundram Classified gene: PRMT9 as Amber List (moderate evidence)
Intellectual disability v9.229 PRMT9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of PRMT9 with syndromic intellectual disability (>20 unrelated families). Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v9.229 PRMT9 Achchuthan Shanmugasundram Gene: prmt9 has been classified as Amber List (Moderate Evidence).
Intellectual disability v9.228 PRMT9 Achchuthan Shanmugasundram Publications for gene: PRMT9 were set to 21937992; 38561334
Intellectual disability v9.227 PRMT9 Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: PRMT9.
Intellectual disability v9.227 PRMT9 Achchuthan Shanmugasundram edited their review of gene: PRMT9: Changed rating: GREEN
Intellectual disability v9.227 PRMT9 Achchuthan Shanmugasundram edited their review of gene: PRMT9: Added comment: PMID:41260215 (2025) reported the identification of biallelic loss-of-function variants in PRMT9 gene in 35 individuals from 26 unrelated families primarily presenting with a neurodevelopmental disorder characterised by global developmental delay, learning disabilities, mild to severe intellectual disability, autism spectrum disorder, epilepsy, and hypotonia.

There were 26 different variants identified in total which included frameshifting indels, nonsense variants, missense variants, and two copy-number variants.

Global developmental delay was present un 33 individuals and mild - severe intellectual disability was present in 29 individuals (moderate and above in 11 patients, where ID was mild-moderate or severity not reported in others).

Functional evidence available from skin fibroblasts derived from affected individuals showed reduced expression at the RNA and/or protein level and subsequent aberrant methylation activity. Transcriptomic analysis of fibroblasts from affected individuals indicated differential expression of genes related to intellectual disability, autism, and cilia, suggesting a role of PRMT9 during ciliogenesis. Under ciliogenesis conditions, the skin-derived fibroblasts exhibited anomalies in the length of primary cilia but normal amounts of cilia. In addition, a prmt9 knockout zebrafish model displayed abnormal social preference in adult animals.

This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 09 January 2026), but has been associated with 'Limited' rating on the DD panel in Gene2Phenotype.; Changed publications to: 21937992, 38561334, 41260215
Intellectual disability v9.45 PRMT9 Achchuthan Shanmugasundram Phenotypes for gene: PRMT9 were changed from to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v9.44 PRMT9 Achchuthan Shanmugasundram Publications for gene: PRMT9 were set to 21937992
Intellectual disability v9.43 PRMT9 Achchuthan Shanmugasundram reviewed gene: PRMT9: Rating: RED; Mode of pathogenicity: None; Publications: 21937992, 38561334; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v8.243 PRMT9 Shahryar Alavi reviewed gene: PRMT9: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 38561334; Phenotypes: intellectual disability, failure to thrive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes