1. Panels
  2. Intellectual disability
  3. SLITRK2
Genes in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability

Gene: SLITRK2

Amber List (moderate evidence)
SLITRK2 (SLIT and NTRK like family member 2)
EnsemblGeneIds (GRCh38): ENSG00000185985
EnsemblGeneIds (GRCh37): ENSG00000185985
OMIM: 300561, Gene2Phenotype
SLITRK2 is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are 8 unrelated individuals reported in literature with monoallelic variants in SLITRK2 and intellectual developmental disorder (7/8 are males). Several male patients inherited variants from unaffected heterozygous mothers. However, there is one heterozygous female reported with a de novo variants and a severe phenotype (severe ID, absent speech, seizures - PMID: 35840571). Thus, the MOI should be set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males).
Created: 10 Feb 2026, 5:25 p.m. | Last Modified: 10 Feb 2026, 5:25 p.m.
Panel Version: 9.257
PMID: 38283150 Afsar et al., 2024
Whole-exome sequencing revealed a novel nonsense variant [c.789T>A; p.(Cys263*); NM_032539.5; NP_115928.1] in exon 5 of the SLITRK2 gene. Affected patient II-1, 9yo hemizygous male, inherited the variant from a heterozygous unaffected mother; father and male sibling confirmed WT. Patient phenotype: neuropsychological issues, including ADHD, obsessive-compulsive behaviors, tantrums, anxiety, and autism; IQ 55-60.
Brain MRI showed prominent CSF spaces and benign enlargement of the extra-axial CSF space versus brain parenchymal volume. Similarly, white matter myelination was delayed and the corpus callosum was also underdeveloped.
Created: 10 Feb 2026, 5:15 p.m. | Last Modified: 10 Feb 2026, 5:15 p.m.
Panel Version: 9.256

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Intellectual developmental disorder, X-linked 111, OMIM:301107; intellectual developmental disorder, X-linked 111, MONDO:0957203

Publications

Created: 10 Feb 2026, 5:15 p.m.
Last Modified: 10 Feb 2026, 5:15 p.m.
Panel version: 9.256

Mike Spiller (Sheffield Children's Hospital)

Green List (high evidence)

Gene is associated with Intellectual developmental disorder, X-linked 111 (OMIM 301107).
Association based on PMID: 35840571 - 7 probands, 6 male one female. Female de novo, males mix of de novo and maternally inherited. ID levels range from borderline-severe, 5 patients moderate-severe.
One LOF, others missenses distributed through the gene. Missenses well supported by mouse data including inability to rescue KO phenotypes, as well as HEK293 transcfection studies..

Also 2 hemizygous LOF on CVA with consistent phenotypes (NHS GMS).
Sources: NHS GMS, Literature
Created: 21 Jan 2026, 10:54 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Publications

Created: 21 Jan 2026, 10:54 a.m.

Panel version: 9.236

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual developmental disorder, X-linked 111, OMIM:301107
  • intellectual developmental disorder, X-linked 111, MONDO:0957203
Tags
Q1_26_promote_green Q1_26_NHS_review
OMIM
300561
Clinvar variants
Variants in SLITRK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Feb 2026, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: SLITRK2 were changed from to Intellectual developmental disorder, X-linked 111, OMIM:301107; intellectual developmental disorder, X-linked 111, MONDO:0957203

10 Feb 2026, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: SLITRK2 were set to PMID: 35840571

10 Feb 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: slitrk2 has been classified as Amber List (Moderate Evidence).

10 Feb 2026, Gel status: 0

Added Tag, Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q1_26_promote_green tag was added to gene: SLITRK2. Tag Q1_26_NHS_review tag was added to gene: SLITRK2.

21 Jan 2026, Gel status: 0

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

Mike Spiller (Sheffield Children's Hospital)

gene: SLITRK2 was added gene: SLITRK2 was added to Intellectual disability. Sources: NHS GMS,Literature Mode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SLITRK2 were set to PMID: 35840571 Review for gene: SLITRK2 was set to GREEN