PanelApp (stage)
  1. Panels
  2. Cutis Laxa
Description
This panel contains genes that cause conditions where cutis laxa is a prominent feature of the condition. This panel is maintained by RMH.
Panel Activity

7 reviewers

  • Belinda Chong (Victorian Clinical Genetics Services)

  • Paul De Fazio (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Chern Lim (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

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

15 Entities

15 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
15 Entitiess
Green Green List (high evidence)
ALDH18A1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Literature
Phenotypes
  • Cutis laxa, autosomal dominant 3 (MIM# 616603)
  • Cutis laxa, autosomal recessive, type IIIA (MIM# 219150)
Tags
Green Green List (high evidence)
ATP6V0A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIA MIM#219200
  • Wrinkly skin syndrome MIM#278250
Tags
Green Green List (high evidence)
ATP6V1A
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IID MIM#617403
Tags
Green Green List (high evidence)
ATP6V1E1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cutis laxa, autosomal recessive, type IIC MIM#617402
Tags
Green Green List (high evidence)
ATP7A
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • GeneReviews
Phenotypes
  • Occipital horn syndrome, MIM#304150
  • Menkes disease, MIM#309400
Tags
Green Green List (high evidence)
EFEMP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IB MIM#614437
Tags
Green Green List (high evidence)
ELN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • GeneReviews
  • Other
Phenotypes
  • Cutis laxa, autosomal dominant MIM#123700
Tags
Green Green List (high evidence)
FBLN5
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • GeneReviews
Phenotypes
  • Cutis laxa, autosomal recessive, type IA MIM#219100
  • Cutis laxa, autosomal dominant 2 MIM#614434
Tags
Green Green List (high evidence)
GORAB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Literature
Phenotypes
  • Geroderma osteodysplasticum MIM#231070
Tags
Green Green List (high evidence)
LTBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIE MIM#619451
Tags
Green Green List (high evidence)
LTBP4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IC MIM#613177
Tags
Green Green List (high evidence)
PTDSS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • GeneReviews
Phenotypes
  • Lenz-Majewski hyperostotic dwarfism MIM#151050
Tags
Green Green List (high evidence)
PYCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Literature
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB MIM#612940
  • Cutis laxa, autosomal recessive, type IIIB MIM#614438
Tags
Green Green List (high evidence)
RIN2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
  • Literature
Phenotypes
  • Macrocephaly, alopecia, cutis laxa, and scoliosis MIM#613075
Tags
Green Green List (high evidence)
SLC2A10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • GeneReviews
Phenotypes
  • Arterial tortuosity syndrome MIM#208050
Tags

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