EFNB1

ephrin B1
OMIM: 300035, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green EFNB1 in Congenital diaphragmatic hernia


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews 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 2.6

1 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 2.2

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

Green EFNB1 in Mendeliome


Version 2.588

1 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 1.5

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green EFNB1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.25

0 reviews 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 2.145

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

Green EFNB1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

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

Green EFNB1 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews 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 1.25

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

Green EFNB1 in Fetal anomalies


Version 2.81

2 reviews 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 3.0

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