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  2. Frontonasal dysplasia

Frontonasal dysplasia (Version 1.1)

Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Midline defect of the nose, HP:0004122; Midline facial cleft, HP:0100629; Cranium bifidum occultum, HP:0004423
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.

It contains genes associated with frontonasal dysplasia, a craniofacial disorder defined as 2 or more of the following:
(1) true ocular hypertelorism;
(2) broadening of the nasal root;
(3) median facial cleft affecting the nose and/or upper lip and palate;
(4) unilateral or bilateral clefting of the alae nasi;
(5) lack of formation of the nasal tip;
(6) anterior cranium bifidum occultum; and 
(7) a V-shaped or widow's peak frontal hairline.
Panel Activity

1 reviewer

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

7 Entities

7 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
7 Entitiess
Green List (high evidence)
ALX1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 3, MIM#613456
Tags
Green List (high evidence)
ALX3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 1, MIM# 136760
Tags
Green List (high evidence)
ALX4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frontonasal dysplasia 2, MIM# 613451
Tags
Green List (high evidence)
EFNB1
1 review
1 green
Other
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Craniofrontonasal dysplasia, MIM# 304110
Tags
Green List (high evidence)
MID1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Opitz GBBB syndrome, type I, MIM# 300000
Tags
Green List (high evidence)
SPECC1L
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Opitz GBBB syndrome, type II, MIM# 145410
  • Hypertelorism, Teebi type, MIM# 145420
Tags
Green List (high evidence)
ZSWIM6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Acromelic frontonasal dysostosis, MIM# 603671
Tags

Major version comments

  • 2021-01-18 23:49 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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