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  3. MTSS1L
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Congenital nystagmus

Gene: MTSS1L

Green List (high evidence)
MTSS1L (MTSS1L, I-BAR domain containing)
EnsemblGeneIds (GRCh38): ENSG00000132613
EnsemblGeneIds (GRCh37): ENSG00000132613
OMIM: 616951, Gene2Phenotype
MTSS1L is in 5 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Alt gene name: MTSS2

Huang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.
- Individuals present with nystagmus (3/5), optic atrophy (1/5), ptosis (2/5)
- Overexpression supports a DN mechanism
Sources: Literature
Created: 6 Oct 2022, 3:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability, MTSS1-related (MONDO#0001071)

Publications

Created: 6 Oct 2022, 3:30 a.m.

Panel version: 1.14

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
OMIM
616951
Clinvar variants
Variants in MTSS1L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Jun 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: MTSS1L were changed from ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086 to Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086

25 Jun 2024, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS2-related (MONDO#0001071) to ntellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086

6 Oct 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS1-related (MONDO#0001071) to Intellectual disability, MTSS2-related (MONDO#0001071)

6 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: mtss1l has been classified as Green List (High Evidence).

6 Oct 2022, Gel status: 1

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

Elena Savva (Victorian Clinical Genetics Services)

gene: MTSS1L was added gene: MTSS1L was added to Congenital nystagmus. Sources: Literature Mode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MTSS1L were set to PMID: 36067766 Phenotypes for gene: MTSS1L were set to Intellectual disability, MTSS1-related (MONDO#0001071) Review for gene: MTSS1L was set to GREEN