PanelApp (test)
  1. Panels
  2. Glaucoma congenital
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

5 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Arina Puzriakova (Genomics England)

  • Sangavi Sivagnanasundram (Melbourne Health)

  • Sarah Milton (Victorian Clinical Genetics Services)

29 Entities

29 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
29 Entitiess
Green Green List (high evidence)
ADAMTS10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Weill-Marchesani syndrome 1, recessive, MIM# 277600
Tags
Green Green List (high evidence)
ADAMTS17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Weill-Marchesani 4 syndrome, recessive, MIM# 613195
Tags
Green Green List (high evidence)
CPAMD8
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Anterior segment dysgenesis 8, MIM# 617319
Tags
Green Green List (high evidence)
CREBBP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Rubinstein-Taybi syndrome 1, MIM# 180849
Tags
Green Green List (high evidence)
CYP1B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, MIM# 231300
Tags
Green Green List (high evidence)
EFEMP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Glaucoma 1, open angle, H, MIM# 611276
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
  • Axenfeld-Rieger syndrome, type 3, MIM# 602482
Tags
Green Green List (high evidence)
IFIH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Singleton-Merten syndrome 1, MIM# 182250
Tags
Green Green List (high evidence)
LMX1B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Nail-patella syndrome, MIM# 161200
Tags
Green Green List (high evidence)
LTBP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Glaucoma 3, primary congenital, D 613086
  • Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, MIM# 251750
Tags
Green Green List (high evidence)
MYOC
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Glaucoma 1A, primary open angle, MIM# 137750
Tags
Green 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
Disease associations
  • Lowe syndrome, MIM# 309000
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
Disease associations
  • Anterior segment dysgenesis 5, multiple subtypes, MIM# 604229
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
  • 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)
POMGNT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, MIM# 253280
Tags
Green Green List (high evidence)
POMT1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, MIM# 236670
Tags
Green Green List (high evidence)
RIGI
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Disease associations
  • Singleton-Merten syndrome 2, MIM# 616298
Tags
Green Green List (high evidence)
SBF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Charcot-Marie-Tooth disease, type 4B2, MIM# 604563
Tags
Green Green List (high evidence)
SH3PXD2B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Frank-ter Haar syndrome, MIM# 249420
Tags
Green Green List (high evidence)
TEK
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Disease associations
  • Glaucoma 3, primary congenital, E, MIM# 617272
Tags
Green Green List (high evidence)
THBS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Disease associations
  • Congenital glaucoma MONDO:0020366, THBS1-related
Tags
Amber Amber List (moderate evidence)
COL4A1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Brain small vessel disease with or without ocular anomalies, MIM# 175780
Tags
Amber Amber List (moderate evidence)
EP300
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Rubinstein-Taybi syndrome 2, MIM# 613684
Tags
Amber Amber List (moderate evidence)
FBN1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Weill-Marchesani syndrome 2, dominant, MIM# 608328
Tags
Amber Amber List (moderate evidence)
FOXE3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Disease associations
  • Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Tags
Amber Amber List (moderate evidence)
MFRP
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Disease associations
  • Microphthalmia, isolated 5, MIM# 611040
Tags
Red Red List (low evidence)
WDR36
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Disease associations
  • Glaucoma 1, open angle, G, MIM# 609887
Tags
  • disputed

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