PanelApp (test)
  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

10 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • chirag patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Chris Richmond (Genetic Health Queensland)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Krithika Murali (Pathology Queensland)

  • Rylee Peters (Victorian Clinical Genetics Services)

  • Sarah Milton (Victorian Clinical Genetics Services)

30 Entities

30 reviewed, 25 green

List Entity Reviews Mode of inheritance Details
30 Entitiess
Green Green List (high evidence)
ADAMTSL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Anterior segment dysgenesis 6, multiple subtypes, MIM# 617315
Tags
Green Green List (high evidence)
ELP4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • ocular dysgenesis caused by defects in PAX6 regulation MONDO:0700246
Tags
Green Green List (high evidence)
FBN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Alagille syndrome 118450
Tags
Green Green List (high evidence)
KERA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Cornea plana 2, autosomal recessive, MIM# 217300
Tags
Green Green List (high evidence)
LAMB2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Pierson syndrome 609049
Tags
Green Green List (high evidence)
LTBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MIM#251750
Tags
Green Green List (high evidence)
PAX6
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • PAX6-related ocular dysgenesis MONDO:0800183
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
Disease associations
  • 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
Disease associations
  • Anterior segment dysgenesis 4, MIM# 137600
  • Axenfeld-Rieger syndrome, type 1, MIM# 180500
Tags
Green Green List (high evidence)
PITX2 upstream regulatory region
PITX2 upstream regulatory region
Region
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Axenfeld-Rieger syndrome, MONDO:0019187
Tags
  • regulatory region
Green Green List (high evidence)
PITX3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • 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
Disease associations
  • Peters anomaly
Tags
Amber Amber List (moderate evidence)
CRYAA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Amber
Disease associations
  • Anterior segment dysgenesis
Tags
Amber Amber List (moderate evidence)
WRAP73
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Disease associations
  • Anterior segment dysgenesis, MONDO:0019503, WRAP73-related
Tags
Red Red List (low evidence)
FOXD3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Red
Disease associations
  • Aniridia, MONDO:0019172
Tags
  • disputed
Red Red List (low evidence)
POMK
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Disease associations
  • Anterior segment dysgenesis, MONDO:0019503, POMK-related
Tags

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