1. Genes and Genomic Entities
  2. MTSS1L

MTSS1L

MTSS1L, I-BAR domain containing
OMIM: 616951, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green MTSS1L in DDG2P


Version 4.2
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MTSS2-associated syndromic intellectual disability
    Tags
    • new-gene-name
    Green MTSS1L in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.6
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review 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