CSMD1

CUB and Sushi multiple domains 1
OMIM: 608397, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Amber CSMD1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Complex neurodevelopmental disorder, MONDO:0100038