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DDG2P

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MTSS2-related syndromic intellectual disability are moderate, monoallelic_autosomal and undetermined (PMID:36067766). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03349.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
Added new-gene-name tag, new approved HGNC gene symbol for MTSS1L is MTSS2.
Created: 16 Oct 2023, 3:29 p.m. | Last Modified: 16 Oct 2023, 3:29 p.m.
Panel Version: 3.73
The DDG2P confidence category for the disease MTSS2-associated syndromic intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:36067766).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
MTSS2-related syndromic intellectual disability; MTSS2-associated syndromic intellectual disability; OMIM:620086.0; MONDO:0859303

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MTSS2-associated syndromic intellectual disability
Tags
new-gene-name
OMIM
616951
Clinvar variants
Variants in MTSS1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MTSS1L was changed from Other to None

6 Oct 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag new-gene-name tag was added to gene: MTSS1L.

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: MTSS1L was added gene: MTSS1L was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 MTSS2-associated syndromic intellectual disability Mode of pathogenicity for gene: MTSS1L was set to Other