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Blepharophimosis (Version 1.1)

Level 2: Ophthalmological disorders

Relevant disorders: Blepharophimosis, HP:0000581
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel contains genes associated with syndromic and non-syndromic blepharophimosis.
Panel Activity

3 reviewers

  • Konstantinos Varvagiannis (Other)

  • Ain Roesley (Victorian Clinical Genetics Services)

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

23 Entities

23 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
23 Entitiess
Green List (high evidence)
BRPF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333
  • MONDO:0015022
Tags
Green List (high evidence)
COLEC10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • 3MC syndrome 3, MIM# 248340
Tags
Green List (high evidence)
COLEC11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • 3MC syndrome 2, MIM# 265050
Tags
Green List (high evidence)
ERCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4, MIM# 610758
Tags
Green List (high evidence)
ERCC5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cerebrooculofacioskeletal syndrome 3,MIM# 616570
Tags
Green List (high evidence)
ERCC6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cerebrooculofacioskeletal syndrome 1, MIM# 214150
Tags
Green List (high evidence)
FOXL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Blepharophimosis, epicanthus inversus, and ptosis, type 1 with premature ovarian insufficiency (POI) and type II without POI (MIM# 110100)
Tags
Green List (high evidence)
HSPG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Schwartz-Jampel syndrome, type 1, MIM# 255800
  • MONDO:0009717
Tags
Green List (high evidence)
HUWE1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, X-linked syndromic, Turner type, MIM# 309590
  • MONDO:0010407
Tags
Green List (high evidence)
KANSL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Koolen-De Vries syndrome, MIM# 610443
  • MONDO:0012496
Tags
  • SV/CNV
Green List (high evidence)
KAT6B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • SBBYSS syndrome, MIM# 603736
  • MONDO:0011365
Tags
Green List (high evidence)
MASP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3MC syndrome 1, MIM# 257920
  • MONDO:0009770
Tags
Green List (high evidence)
MED12
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ohdo syndrome, X-linked, MIM# 300895
Tags
Green List (high evidence)
MYH3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arthrogryposis, distal, type 2A (Freeman-Sheldon), MIM# 193700
Tags
Green List (high evidence)
PIEZO2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Marden-Walker syndrome, MIM# 248700
  • Arthrogryposis, distal, type 5, MIM# 108145
Tags
Green List (high evidence)
RERE
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Tags
Green List (high evidence)
SCARF2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Van den Ende-Gupta syndrome, MIM# 600920
Tags
Green List (high evidence)
SMARCA2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Blepharophimosis-intellectual disability syndrome (BIS), MIM#619293
Tags
Green List (high evidence)
TLK2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal dominant 57, MIM# 618050
Tags
Green List (high evidence)
TRAF7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164
Tags
Green List (high evidence)
UBE3B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Kaufman oculocerebrofacial syndrome, MIM# 244450
  • MONDO:0009485
Tags
Amber List (moderate evidence)
POGZ
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • White-Sutton syndrome, MIM# 616364
  • MONDO:0014606
Tags
Red List (low evidence)
ERCC2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Cerebrooculofacioskeletal syndrome 2, MIM# 610756
Tags

Major version comments

  • 2021-06-06 00:31 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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