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Intellectual disability

Gene: MTSS1L

Green List (high evidence)
MTSS1L (MTSS1L, I-BAR domain containing)
EnsemblGeneIds (GRCh38): ENSG00000132613
EnsemblGeneIds (GRCh37): ENSG00000132613
OMIM: 616951, Gene2Phenotype
MTSS1L is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

New approved HGNC gene symbol for MTSS1L is MTSS2.
Created: 24 Jan 2024, 7:06 p.m. | Last Modified: 24 Jan 2024, 7:08 p.m.
Panel Version: 5.409

Phenotypes
Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086

Created: 24 Jan 2024, 7:06 p.m.
Last Modified: 24 Jan 2024, 7:08 p.m.
Panel version: 5.409

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286
Comment on list classification: Sufficient number of unrelated cases with shared phenotype and supported by functional studies to warrant a Green rating at the next GMS panel update.
Created: 3 Oct 2022, 2:06 p.m. | Last Modified: 3 Oct 2022, 2:06 p.m.
Panel Version: 3.1734
Huang et al. 2022 (PMID: 36067766) reported five unrelated individuals with the same heterozygous de novo variant (c.2011C>T; p.Arg671Trp) in MTSS2 (formally known as MTSS1L). Linkage analysis was not performed but given the variants arose de novo and the mixed ethnicity of the affected individuals (4 European, 1 Chinese) a founder effect can be ruled out.

Subjects displayed a shared phenotype of GDD and/or ID, ophthalmological anomalies (most commonly nystagmus), microcephaly (primary in 2, relative in 3) and shared mild facial dysmorphisms. The single adult patient also presented with seizures and optic atrophy.

Functional studies showed the variant leads to a decrease in mRNA level but does not impact protein levels of MTSS2. However, a Drosophila model demonstrated that loss of the fly ortholog results in defects in locomotor and visual functions which were rescued by human MTSS2 and only partially rescued by the MTSS2 c.2011C>T variant. Overexpression of the c.2011C>T variant caused similar phenotypes as the LoF mutant indicating a possible dominant-negative effect.
Sources: Literature
Created: 3 Oct 2022, 2:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Global developmental delay; Intellectual disability; Ophthalmological anomalies; Microcephaly; Mild facial dysmorphisms

Publications

Created: 3 Oct 2022, 2:05 p.m.

Panel version: 5.286

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086
Tags
new-gene-name
OMIM
616951
Clinvar variants
Variants in MTSS1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MTSS1L were changed from Global developmental delay; Intellectual disability; Ophthalmological anomalies; Microcephaly; Mild facial dysmorphisms to Intellectual developmental disorder with ocular anomalies and distinctive facial features, OMIM:620086

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_22_promote_green was removed from gene: MTSS1L.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to MTSS1L. Source Expert Review Green was added to MTSS1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Oct 2022, Gel status: 2

Removed Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_22_rating was removed from gene: MTSS1L. Tag Q4_22_promote_green tag was added to gene: MTSS1L.

3 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: mtss1l has been classified as Amber List (Moderate Evidence).

3 Oct 2022, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: MTSS1L was added gene: MTSS1L was added to Intellectual disability. Sources: Literature new-gene-name, Q4_22_rating tags were added to gene: MTSS1L. Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTSS1L were set to 36067766 Phenotypes for gene: MTSS1L were set to Global developmental delay; Intellectual disability; Ophthalmological anomalies; Microcephaly; Mild facial dysmorphisms Review for gene: MTSS1L was set to GREEN