DLL3

delta like canonical Notch ligand 3
OMIM: 602768, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green DLL3 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.239

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Red DLL3 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Green DLL3 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Green DLL3 in Spondylocostal Dysostosis


Level 2: Skeletal disorders
Version 0.10

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Green DLL3 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.346

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive 277300

Green DLL3 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.110

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)

Green DLL3 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Spondylocostal dysostosis, autosomal recessive, 1

Green DLL3 in Fetal anomalies


Version 1.465

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Green DLL3 in Prepair 1000+


Level 2: Screening
Version 2.14

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
  • MONDO:0020692

Red DLL3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.140

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300

Green DLL3 in Prepair 500+


Level 2: Screening
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300
  • MONDO:0020692