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Intellectual disability

Gene: VPS36

Amber List (moderate evidence)
VPS36 (vacuolar protein sorting 36 homolog)
EnsemblGeneIds (GRCh38): ENSG00000136100
EnsemblGeneIds (GRCh37): ENSG00000136100
OMIM: 610903, Gene2Phenotype
VPS36 is in 3 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: 3 unrelated families have been reported with biallelic VPS36 variants and intellectual disability, and developmental delay including motor & speech delay. Hence, this gene can be promoted to Green at the next GMS update.
Created: 27 Jul 2026, 9:59 a.m. | Last Modified: 27 Jul 2026, 9:59 a.m.
Panel Version: 10.62
PMID: 42362802 Chaurasia et al., 2026
Family 21 - VPS36 exon2-3 deletion - 3 affected sibs, one deceased (8yrs)
Family 51 - consanguineous parents; VPS36 c.1103G>A, p.Arg368His - 2 affected sibs, died at 15 months and 3 years
Family 52 - consanguineous parents; VPS36 c.1103G>A, p.Arg368His - 2 affected sibs, died at 4 months and 21 months
Family 53 - consanguineous parents; VPS36 c.1103G>A, p.Arg368His - 3 affected sibs, deceased; 2 unaffected sibs not genotyped
Probands confirmed homozygous, unaffected parents heterozygous. Families 51-53 = 2 Pakistani and 1 Saudi Arabian family. F51 and F53 (Pakistani) were found to have common ancestry, but F52 had a different haplotype.
Phenotypic spectrum of 6 genotyped affected individuals: microcephaly (5/6), motor & speech delay (6/6), ID (5/5, not assessed in F52), seizures (5/6), spasticity (5/5), CC agenesis (6/6), cerebellar atrophy (4/6), ventriculomegaly (5/5).

PMID: 28600779 Monies et al., 2017
Individual 16W-0233 - Saudi Arabian patient, homozygous for VPS36:NM_001282169:exon14:c.894-2->T - phenotype: Speech delay, intellectual disability.

VPS36 is not yet associated with a disease entity in OMIM, ClinGen, or Gene2Phenotype (resources accessed 27th July 2026).
Sources: Literature
Created: 27 Jul 2026, 9:50 a.m. | Last Modified: 27 Jul 2026, 10:07 a.m.
Panel Version: 10.62

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder, MONDO:0700092

Publications

Created: 27 Jul 2026, 9:50 a.m.
Last Modified: 27 Jul 2026, 10:07 a.m.
Panel version: 10.62

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
Tags
Q3_26_promote_green
OMIM
610903
Clinvar variants
Variants in VPS36
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jul 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: vps36 has been classified as Amber List (Moderate Evidence).

27 Jul 2026, Gel status: 1

Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q3_26_promote_green tag was added to gene: VPS36.

27 Jul 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: VPS36 was added gene: VPS36 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: VPS36 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS36 were set to 28600779; 42362802 Phenotypes for gene: VPS36 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: VPS36 was set to AMBER