PanelApp (staging)
  1. Panels
  2. Eye Anterior Segment Abnormalities
Description
This panel was developed and is maintained by VCGS.

Anterior segment dysgeneses are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. Clinical features include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface.

Anterior segment dysgenesis can occur in isolation or as part of a more complex eye malformation or syndromic disorder. Also consider applying the Anophthalmia_Microphthalmia_Coloboma and Cataracts panels as indicated.
Panel Activity

6 reviewers

  • Chris Richmond (Genetic Health Queensland)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

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

24 Entities

24 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
24 Entitiess
Green Green List (high evidence)
ADAMTSL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectopia lentis et pupillae, AR (MIM#225200)
  • Isolated ectopia lentis, autosomal recessive, AR (MIM#225100), Craniosynostosis with ectopia lentis, AR (MONDO#0011347)
Tags
Green Green List (high evidence)
ASPH
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Traboulsi syndrome , MIM#601552
Tags
Green Green List (high evidence)
B3GLCT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Peters-plus syndrome, MIM# 261540
Tags
Green Green List (high evidence)
BMP4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, syndromic 6, MIM# 607932
  • Anterior segment dysgenesis
  • Peter's anomaly
Tags
Green Green List (high evidence)
COL4A1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773
  • Brain small vessel disease with or without ocular anomalies 175780
  • Microangiopathy and leukoencephalopathy, pontine 618564
Tags
Green Green List (high evidence)
CPAMD8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis
Tags
Green Green List (high evidence)
CYP1B1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315
Tags
Green Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ectopia lentis, familial (MIM#129600)
Tags
Green Green List (high evidence)
FOXC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 3, multiple subtypes, MIM# 601631
  • Axenfeld-Rieger syndrome, type 3, MIM# 602482
Tags
Green Green List (high evidence)
FOXC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphedema-distichiasis syndrome 153400
Tags
Green Green List (high evidence)
FOXE3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Tags
Green Green List (high evidence)
GJA8
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cataract 1, multiple types, MIM# 116200
  • Microphthalmia
  • Anterior segment dysgenesis
Tags
Green Green List (high evidence)
ITPR1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Gillespie syndrome, MIM# 206700
Tags
Green Green List (high evidence)
JAG1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alagille syndrome 118450
Tags
Green Green List (high evidence)
LAMB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Pierson syndrome 609049
Tags
Green Green List (high evidence)
LTBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MIM#251750
Tags
Green Green List (high evidence)
PAX6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aniridia MIM# 106210
  • Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293
  • Cataract with late-onset corneal dystrophy MIM# 106210
  • Foveal hypoplasia 1 MIM# 136520
  • Keratitis MIM# 148190
  • Optic nerve hypoplasia MIM# 165550
Tags
Green Green List (high evidence)
PIK3R1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SHORT syndrome, MIM# 269880
Tags
Green Green List (high evidence)
PITX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 4, MIM# 137600
  • Axenfeld-Rieger syndrome, type 1, MIM# 180500
Tags
Green Green List (high evidence)
PITX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250
Tags
Green Green List (high evidence)
PXDN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 7, with sclerocornea, MIM# 269400
Tags
Green Green List (high evidence)
SOX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Peters' anomaly, no OMIM #
  • Microphthalmia, syndromic 3, OMIM # 206900
  • Optic nerve hypoplasia and abnormalities of the central nervous system, OMIM # 206900
Tags
Amber Amber List (moderate evidence)
COL6A3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Peters anomaly
Tags
Amber Amber List (moderate evidence)
CRYAA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Anterior segment dysgenesis
Tags

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