Activity

Filter

Cancel
Date Panel Item Activity
16 actions
Intellectual disability v11.93 SMG9 Luke Stuart Phenotypes for gene: SMG9 were changed from Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, OMIM:619995; Complex neurodevelopmental disorder, MONDO:0100038; Heart and brain malformation syndrome, OMIM:616920 to Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, OMIM:619995; Complex neurodevelopmental disorder, MONDO:0100038; Heart and brain malformation syndrome, OMIM:616920; Heart and brain malformation syndrome, MONDO:0014833
Intellectual disability v11.92 SMG9 Luke Stuart edited their review of gene: SMG9: Changed phenotypes to: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, OMIM:619995, Complex neurodevelopmental disorder, MONDO:0100038, Heart and brain malformation syndrome, OMIM:616920, Heart and brain malformation syndrome, MONDO:0014833
Intellectual disability v11.92 SMG9 Luke Stuart edited their review of gene: SMG9: Changed phenotypes to: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, OMIM:619995, Complex neurodevelopmental disorder, MONDO:0100038, Heart and brain malformation syndrome, OMIM:616920
Intellectual disability v11.92 SMG9 Luke Stuart changed review comment from: An additional eight patients harboring four distinct biallelic SMG9 variants have been identified with varying intellectual disability/ developmental delay as a cardinal feature.

Lemire et al., 2020; PMID 32412169: one proband is described, homozgous for SMG9 c.1508G>C, p.(Trp503Ser), detected by WES. They presented with severe intellectual disability and global developmental delay; markedly delayed speech and walking; feeding difficulty, hypotonia, bilateral Duane anomaly, and congenital heart defect (ASD/VSD).

Rahikkala et al., 2022; PMID 35087184 identified homozygous SMG9 c.551T>C p.(Val184Ala) via exome sequencing in five individuals from three Finnish families. Clinical presentation of the patients was described, comprising a syndromic neurodevelopmental phenotype: Mild or moderate ID (N = 5/5, 100%); delayed motor development, muscular hypotonia during childhood (N = 2/5, 40%). Language development was markedly delayed in all patients (N = 5/5, 100%); strabismus (N = 4/5, 80%); short stature (N = 1/5, 20%), otherwise growth parameters were normal. Complex congenital heart defect (N = 1/5, 20%). All patients had muscular hypertonia and clonic or very brisk reflexes in their lower limbs. In addition, they had intention tremor and slow diadochokinesis (N = 5/5, 100%). Four patients were described as ataxic when they were children (N = 4/5, 80%).

Yang et al., 2022; PMID 35321723: SMG9 c.1318_1319delAG (p.Ser440*) and c.947A>G (p.His316Arg)) were identified in compound heterozygosity in a proband who exhibited syndromic intellectual disability with congenital heart defect. A sibiling was similarly affected, with severe psychomotor delay, mild craniofacial dysmorphism, and congenital heart defects.

SMG9 is associated with the relevant phenotype via OMIM (#619995), accessed 11/2026.; to: An additional eight patients harboring four distinct biallelic SMG9 variants have been identified with varying intellectual disability/ developmental delay as a cardinal feature.

Lemire et al., 2020; PMID 32412169: one proband is described, homozgous for SMG9 c.1508G>C, p.(Trp503Ser), detected by WES. They presented with severe intellectual disability and global developmental delay; markedly delayed speech and walking; feeding difficulty, hypotonia, bilateral Duane anomaly, and congenital heart defect (ASD/VSD).

Rahikkala et al., 2022; PMID 35087184 identified homozygous SMG9 c.551T>C p.(Val184Ala) via exome sequencing in five individuals from three Finnish families. Clinical presentation of the patients was described, comprising a syndromic neurodevelopmental phenotype: Mild or moderate ID (N = 5/5, 100%); delayed motor development, muscular hypotonia during childhood (N = 2/5, 40%). Language development was markedly delayed in all patients (N = 5/5, 100%); strabismus (N = 4/5, 80%); short stature (N = 1/5, 20%), otherwise growth parameters were normal. Complex congenital heart defect (N = 1/5, 20%). All patients had muscular hypertonia and clonic or very brisk reflexes in their lower limbs. In addition, they had intention tremor and slow diadochokinesis (N = 5/5, 100%). Four patients were described as ataxic when they were children (N = 4/5, 80%).

Yang et al., 2022; PMID 35321723: SMG9 c.1318_1319delAG (p.Ser440*) and c.947A>G (p.His316Arg)) were identified in compound heterozygosity in a proband who exhibited syndromic intellectual disability with congenital heart defect. A sibiling was similarly affected, with severe psychomotor delay, mild craniofacial dysmorphism, and congenital heart defects.

SMG9 is associated with the relevant phenotypes via OMIM (# 619995 and # 616920), accessed 11/2026.
Intellectual disability v11.92 SMG9 Luke Stuart Publications for gene: SMG9 were set to 27018474; 30914295; 31390136
Intellectual disability v11.91 SMG9 Luke Stuart Phenotypes for gene: SMG9 were changed from Heart and brain malformation syndrome, 616920 to Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, OMIM:619995; Complex neurodevelopmental disorder, MONDO:0100038; Heart and brain malformation syndrome, OMIM:616920
Intellectual disability v11.90 SMG9 Luke Stuart edited their review of gene: SMG9: Changed phenotypes to: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, MIM619995, Complex neurodevelopmental disorder,MONDO:0100038, Heart and brain malformation syndrome, MIM616920
Intellectual disability v11.90 SMG9 Luke Stuart edited their review of gene: SMG9: Changed phenotypes to: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, 619995, Complex neurodevelopmental disorder,MONDO:0100038, ]
Intellectual disability v11.86 SMG9 Luke Stuart Tag watchlist was removed from gene: SMG9.
Tag Q4_26_promote_green tag was added to gene: SMG9.
Intellectual disability v11.86 SMG9 Luke Stuart reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 32412169, 35087184, 35321723; Phenotypes: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies, 619995, Complex neurodevelopmental disorder,MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1084 SMG9 Catherine Snow Publications for gene: SMG9 were set to 27018474; 30914295
Intellectual disability v2.1083 SMG9 Catherine Snow edited their review of gene: SMG9: Added comment: Maintaining Amber rating as although another individual with a variant has been identified in PMID: 31390136 there are still only full details of serve developmental delays for 2 unrelated families due to the young age of death of one reported individual in 27018474; Changed publications: 31390136
Intellectual disability v2.1047 SMG9 Konstantinos Varvagiannis reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.981 SMG9 Catherine Snow Tag watchlist tag was added to gene: SMG9.
Intellectual disability v2.979 SMG9 Catherine Snow Mode of inheritance for gene SMG9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.978 SMG9 Catherine Snow gene: SMG9 was added
gene: SMG9 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: SMG9 was set to
Publications for gene: SMG9 were set to 27018474; 30914295
Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, 616920