MTSS1L

MTSS1L, I-BAR domain containing
OMIM: 616951, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green MTSS1L in Mendeliome


Version 1.4220

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Tags
  • new gene name

Green MTSS1L in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.405

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Tags
  • new gene name

Amber MTSS1L in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.317

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086

Green MTSS1L in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.638

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086
Tags
  • new gene name

Green MTSS1L in Congenital nystagmus


Level 2: Ophthalmological disorders
Version 1.24

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with ocular anomalies and distinctive facial features MIM#620086