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  2. Multiple pterygium syndrome_Fetal akinesia sequence

Multiple pterygium syndrome_Fetal akinesia sequence (Version 1.5)

Level 2: Dysmorphic and congenital abnormality syndromes

Relevant disorders: Pterygium, HP:0001059; Akinesia, HP:0002304; Fetal akinesia sequence, HP:0001989
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel contains genes associated with severe perinatal disorders presenting with joint contractures, webbing and reduced fetal movements in particular those associated with:
-fetal akinesia deformation sequence (FADS);
-multiple pterygium syndromes;
-lethal congenital contractures syndromes.

Please also consider a broader range of neurological conditions covered by the Congenital Myasthenia, Myopathy - paediatric onset, Arthrogryposis and Neuropathy panels, as well as the Intellectual disability panel.
Panel Activity

2 reviewers

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

  • Chirag Patel (Genetic Health Queensland)

27 Entities

27 reviewed, 17 green

List Entity Reviews Mode of inheritance Details
27 Entitiess
Green List (high evidence)
ADCY6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 8, MIM# 616287
  • MONDO:0014570
Tags
Green List (high evidence)
ADGRG6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Lethal congenital contracture syndrome 9, MIM# 616503
  • MONDO:0014670
Tags
Green List (high evidence)
CHRNA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM# 253290
  • MONDO:0009668
Tags
  • treatable
Green List (high evidence)
CHRND
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM# 253290
  • MONDO:0009668
Tags
  • treatable
Green List (high evidence)
CHRNG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Escobar syndrome, MIM# 265000
  • Multiple pterygium syndrome, lethal type, MIM# 253290
  • MONDO:0009926
  • MONDO:0009668
Tags
Green List (high evidence)
CNTNAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Lethal congenital contracture syndrome 7, MIM# 616286
  • MONDO:0014569
Tags
Green List (high evidence)
DOK7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fetal akinesia deformation sequence 3, MIM# 618389
Tags
Green List (high evidence)
GLDN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Lethal congenital contracture syndrome 11, MIM# 617194
  • MONDO:0014965
Tags
Green List (high evidence)
GLE1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lethal congenital contracture syndrome 1, MIM# 253310
Tags
Green List (high evidence)
KLHL40
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Nemaline myopathy 8, autosomal recessive, MIM# 615348
Tags
  • founder
Green List (high evidence)
MUSK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fetal akinesia deformation sequence 1, MIM# 208150
  • MONDO:0100101
Tags
Green List (high evidence)
NUP88
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Fetal akinesia deformation sequence 4, MIM# 618393
Tags
Green List (high evidence)
PIP5K1C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Lethal congenital contractural syndrome 3, MIM# 611369
Tags
Green List (high evidence)
RAPSN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fetal akinesia deformation sequence 2, MIM# 618388
Tags
Green List (high evidence)
RIPK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Popliteal pterygium syndrome, Bartsocas-Papas type, MIM# 263650
Tags
Green List (high evidence)
RYR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fetal akinesia sequence
Tags
Green List (high evidence)
TPM2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Multiple pterygium syndrome
Tags
Amber List (moderate evidence)
AGRN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Fetal akinesia sequence
Tags
Amber List (moderate evidence)
CHRNE
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital myasthenia, multiple types
Tags
Amber List (moderate evidence)
COLQ
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, congenital, 5, MIM# 603034
Tags
Amber List (moderate evidence)
ERBB3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lethal congenital contractural syndrome 2, MIM# 607598
Tags
Amber List (moderate evidence)
KIF21A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Severe fetal akinesia with arthrogryposis multiplex
Tags
Amber List (moderate evidence)
MYBPC1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Lethal congenital contracture syndrome 4, MIM# 614915
Tags
Amber List (moderate evidence)
NEK9
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Lethal congenital contracture syndrome 10, MIM# 617022
Tags
  • founder
Amber List (moderate evidence)
ZBTB42
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • Lethal congenital contracture syndrome 6, MIM# 616248
Tags
Red List (low evidence)
DNM2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Lethal congenital contracture syndrome 5, MIM# 615368
Tags
Red List (low evidence)
MYBPC2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Fetal akinesia
  • Hydrops
  • Hygroma
  • Multiple pterygium
Tags

Major version comments

  • 2021-06-14 08:25 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
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  • Red list (low evidence)

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