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Glaucoma congenital (Version 1.9)

Level 2: Ophthalmological disorders

Relevant disorders: Glaucoma, HP:0000501
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS.

This panel has been compared against the Genomics England 'Glaucoma (developmental)' panel with all discrepancies resolved and reciprocal feedback provided to Genomics England, 7/8/2020.
Panel Activity

3 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Arina Puzriakova (Genomics England)

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

27 Entities

27 reviewed, 22 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green List (high evidence)
ADAMTS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Weill-Marchesani syndrome 1, recessive, MIM# 277600
Tags
Green List (high evidence)
ADAMTS17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Tags
Green List (high evidence)
CPAMD8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Anterior segment dysgenesis 8, MIM# 617319
Tags
Green List (high evidence)
CREBBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 1, MIM# 180849
Tags
Green List (high evidence)
CYP1B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300
Tags
Green List (high evidence)
DDX58
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Singleton-Merten syndrome 2, MIM# 616298
Tags
Green List (high evidence)
EFEMP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glaucoma 1, open angle, H, MIM# 611276
Tags
Green List (high evidence)
FOXC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Axenfeld-Rieger syndrome, type 3, MIM# 602482
Tags
Green List (high evidence)
IFIH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Singleton-Merten syndrome 1, MIM# 182250
Tags
Green List (high evidence)
LMX1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nail-patella syndrome, MIM# 161200
Tags
Green List (high evidence)
LTBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glaucoma 3, primary congenital, D 613086
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750
Tags
Green List (high evidence)
MYOC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glaucoma 1A, primary open angle, MIM# 137750
Tags
Green List (high evidence)
OCRL
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Lowe syndrome, MIM# 309000
Tags
Green List (high evidence)
PAX6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229
Tags
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 List (high evidence)
PITX2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Axenfeld-Rieger syndrome, type 1, MIM# 180500
Tags
Green List (high evidence)
POMGNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280
Tags
Green List (high evidence)
POMT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Tags
Green List (high evidence)
SBF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B2, MIM# 604563
Tags
Green List (high evidence)
SH3PXD2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Frank-ter Haar syndrome, MIM# 249420
Tags
Green List (high evidence)
TEK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Glaucoma 3, primary congenital, E, MIM# 617272
Tags
Green List (high evidence)
THBS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital glaucoma MONDO:0020366, THBS1-related
Tags
Amber List (moderate evidence)
COL4A1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Brain small vessel disease with or without ocular anomalies, MIM# 175780
Tags
Amber List (moderate evidence)
EP300
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Rubinstein-Taybi syndrome 2, MIM# 613684
Tags
Amber List (moderate evidence)
FBN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Weill-Marchesani syndrome 2, dominant, MIM# 608328
Tags
Amber List (moderate evidence)
FOXE3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Tags
Amber List (moderate evidence)
MFRP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Microphthalmia, isolated 5, MIM# 611040
Tags

Major version comments

  • 2020-10-08 03:15 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

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

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