EFNB1

ephrin B1
OMIM: 300035, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green EFNB1 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.14

review Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniofrontonasal dysplasia, MIM# 304110
  • Diaphragmatic hernia

Green EFNB1 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.68

review Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniofrontonasal dysplasia, MIM# 304110

Green EFNB1 in Frontonasal dysplasia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.1

review Other
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Craniofrontonasal dysplasia, MIM# 304110

Green EFNB1 in Mendeliome


Version 1.1902

review Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniofrontonasal dysplasia, MIM# 304110

Green EFNB1 in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green EFNB1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.522

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red EFNB1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review Other
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Craniofrontonasal dysplasia, MIM# 304110

Green EFNB1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniofrontonasal dysplasia, 304110 (3)

Green EFNB1 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review Other
Sources
  • Expert Review Green
Phenotypes
  • CRANIOFRONTONASAL SYNDROME
  • CFNS

Green EFNB1 in Fetal anomalies


Version 1.255

review Other
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Craniofrontonasal dysplasia, MIM# 304110
  • Diaphragmatic hernia

Green EFNB1 in Prepair 1000+


Level 2: Screening
Version 1.9

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Craniofrontonasal dysplasia (MIM#304110)