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Cutis Laxa v2.0 SLC2A10 Gene migrated from ENSG00000197496 to ENSG00000197496 (gene set migration)
Cutis Laxa v2.0 RIN2 Gene migrated from ENSG00000132669 to ENSG00000132669 (gene set migration)
Cutis Laxa v2.0 PTDSS1 Gene migrated from ENSG00000156471 to ENSG00000156471 (gene set migration)
Cutis Laxa v2.0 LTBP4 Gene migrated from ENSG00000090006 to ENSG00000090006 (gene set migration)
Cutis Laxa v2.0 GORAB Gene migrated from ENSG00000120370 to ENSG00000120370 (gene set migration)
Cutis Laxa v2.0 ELN Gene migrated from ENSG00000049540 to ENSG00000049540 (gene set migration)
Cutis Laxa v2.0 ATP7A Gene migrated from ENSG00000165240 to ENSG00000165240 (gene set migration)
Cutis Laxa v2.0 ALDH18A1 Gene migrated from ENSG00000059573 to ENSG00000059573 (gene set migration)
Cutis Laxa v2.0 FBLN5 Gene migrated from ENSG00000140092 to ENSG00000140092 (gene set migration)
Cutis Laxa v2.0 ATP6V1A Gene migrated from ENSG00000114573 to ENSG00000114573 (gene set migration)
Cutis Laxa v2.0 ATP6V1E1 Gene migrated from ENSG00000131100 to ENSG00000131100 (gene set migration)
Cutis Laxa v2.0 PYCR1 Gene migrated from ENSG00000183010 to ENSG00000183010 (gene set migration)
Cutis Laxa v2.0 EFEMP2 Gene migrated from ENSG00000172638 to ENSG00000172638 (gene set migration)
Cutis Laxa v2.0 ATP6V0A2 Gene migrated from ENSG00000185344 to ENSG00000185344 (gene set migration)
Cutis Laxa v2.0 LTBP1 Gene migrated from ENSG00000049323 to ENSG00000049323 (gene set migration)
Cutis Laxa v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.0
Cutis Laxa v1.0 Zornitza Stark promoted panel to version 1.0
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Cutis Laxa v0.26 SLC2A10 Zornitza Stark Publications for gene: SLC2A10 were set to
Cutis Laxa v0.25 RIN2 Zornitza Stark Marked gene: RIN2 as ready
Cutis Laxa v0.25 RIN2 Zornitza Stark Gene: rin2 has been classified as Green List (High Evidence).
Cutis Laxa v0.25 RIN2 Zornitza Stark Publications for gene: RIN2 were set to
Cutis Laxa v0.24 PYCR1 Zornitza Stark Marked gene: PYCR1 as ready
Cutis Laxa v0.24 PYCR1 Zornitza Stark Gene: pycr1 has been classified as Green List (High Evidence).
Cutis Laxa v0.24 PYCR1 Zornitza Stark Publications for gene: PYCR1 were set to
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Marked gene: PTDSS1 as ready
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Gene: ptdss1 has been classified as Green List (High Evidence).
Cutis Laxa v0.23 PTDSS1 Zornitza Stark Publications for gene: PTDSS1 were set to
Cutis Laxa v0.22 PTDSS1 Zornitza Stark Mode of inheritance for gene: PTDSS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cutis Laxa v0.21 LTBP4 Zornitza Stark Marked gene: LTBP4 as ready
Cutis Laxa v0.21 LTBP4 Zornitza Stark Gene: ltbp4 has been classified as Green List (High Evidence).
Cutis Laxa v0.21 LTBP4 Zornitza Stark Publications for gene: LTBP4 were set to
Cutis Laxa v0.20 GORAB Zornitza Stark Marked gene: GORAB as ready
Cutis Laxa v0.20 GORAB Zornitza Stark Gene: gorab has been classified as Green List (High Evidence).
Cutis Laxa v0.20 GORAB Zornitza Stark Publications for gene: GORAB were set to
Cutis Laxa v0.19 ELN Zornitza Stark Marked gene: ELN as ready
Cutis Laxa v0.19 ELN Zornitza Stark Gene: eln has been classified as Green List (High Evidence).
Cutis Laxa v0.19 ELN Zornitza Stark Publications for gene: ELN were set to
Cutis Laxa v0.18 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Marked gene: EFEMP2 as ready
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence).
Cutis Laxa v0.17 EFEMP2 Zornitza Stark Publications for gene: EFEMP2 were set to
Cutis Laxa v0.16 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Cutis Laxa v0.16 ATP7A Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence).
Cutis Laxa v0.16 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Occipital horn syndrome MIM#304150 to Occipital horn syndrome, MIM#304150; Menkes disease, MIM#309400
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Marked gene: ATP6V0A2 as ready
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Gene: atp6v0a2 has been classified as Green List (High Evidence).
Cutis Laxa v0.15 ATP6V0A2 Zornitza Stark Publications for gene: ATP6V0A2 were set to
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Marked gene: ALDH18A1 as ready
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Gene: aldh18a1 has been classified as Green List (High Evidence).
Cutis Laxa v0.14 ALDH18A1 Zornitza Stark Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cutis Laxa v0.13 ALDH18A1 Zornitza Stark Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA MIM#219150 to Cutis laxa, autosomal dominant 3 (MIM# 616603); Cutis laxa, autosomal recessive, type IIIA (MIM# 219150)
Cutis Laxa v0.12 ALDH18A1 Zornitza Stark Publications for gene: ALDH18A1 were set to
Cutis Laxa v0.11 Zornitza Stark List of related panels changed from to Cutis laxa HP:0000973
Cutis Laxa v0.10 FBLN5 Zornitza Stark changed review comment from: >3 families reported and functional data including mouse model.
Sources: Expert list; to: >3 families reported and functional data including mouse model.

Single report of mono-allelic variant (large intragenic duplication).

Sources: Expert list
Cutis Laxa v0.10 FBLN5 Zornitza Stark Marked gene: FBLN5 as ready
Cutis Laxa v0.10 FBLN5 Zornitza Stark Gene: fbln5 has been classified as Green List (High Evidence).
Cutis Laxa v0.10 FBLN5 Zornitza Stark Phenotypes for gene: FBLN5 were changed from Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434 to Cutis laxa, autosomal recessive, type IA MIM#219100; Cutis laxa, autosomal dominant 2 MIM#614434
Cutis Laxa v0.9 FBLN5 Zornitza Stark Publications for gene: FBLN5 were set to
Cutis Laxa v0.8 LTBP1 Zornitza Stark Phenotypes for gene: LTBP1 were changed from cutis laxa syndrome to Cutis laxa, autosomal recessive, type IIE MIM#619451
Cutis Laxa v0.7 LTBP1 Sue White Marked gene: LTBP1 as ready
Cutis Laxa v0.7 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
Cutis Laxa v0.7 LTBP1 Sue White Classified gene: LTBP1 as Green List (high evidence)
Cutis Laxa v0.7 LTBP1 Sue White Gene: ltbp1 has been classified as Green List (High Evidence).
Cutis Laxa v0.6 LTBP1 Chern Lim gene: LTBP1 was added
gene: LTBP1 was added to Cutis Laxa. Sources: Literature
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to cutis laxa syndrome
Review for gene: LTBP1 was set to GREEN
gene: LTBP1 was marked as current diagnostic
Added comment: PMID:33991472
- Premature truncating variants in multiple affected individuals from 4 unrelated consanguineous families.
- Affected individuals present with connective tissue features (cutis laxa and inguinal hernia), craniofacial dysmorphology, variable heart defects, and prominent skeletal features (craniosynostosis, short stature, brachydactyly, and syndactyly).
- Functional studies done on patient fibroblasts and zebrafish models.
Sources: Literature
Cutis Laxa v0.5 ATP6V1E1 Bryony Thompson changed review comment from: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular anlayses of patient tissues was supportive.
Sources: Expert list; to: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular analyses of patient tissues was supportive.
Sources: Expert list
Cutis Laxa v0.5 ATP6V1A Bryony Thompson Marked gene: ATP6V1A as ready
Cutis Laxa v0.5 ATP6V1A Bryony Thompson Gene: atp6v1a has been classified as Green List (High Evidence).
Cutis Laxa v0.5 ATP6V1A Bryony Thompson Classified gene: ATP6V1A as Green List (high evidence)
Cutis Laxa v0.5 ATP6V1A Bryony Thompson Gene: atp6v1a has been classified as Green List (High Evidence).
Cutis Laxa v0.4 ATP6V1A Bryony Thompson gene: ATP6V1A was added
gene: ATP6V1A was added to Cutis Laxa. Sources: Literature
Mode of inheritance for gene: ATP6V1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1A were set to 28065471
Phenotypes for gene: ATP6V1A were set to Cutis laxa, autosomal recessive, type IID MIM#617403
Review for gene: ATP6V1A was set to GREEN
Added comment: 3 unrelated consanguineous families homozygous for 2 different missense variants (G72D, R338C), with supportive molecular analyses of patient cells.
Sources: Literature
Cutis Laxa v0.3 ATP6V1E1 Bryony Thompson Marked gene: ATP6V1E1 as ready
Cutis Laxa v0.3 ATP6V1E1 Bryony Thompson Gene: atp6v1e1 has been classified as Green List (High Evidence).
Cutis Laxa v0.3 ATP6V1E1 Bryony Thompson Classified gene: ATP6V1E1 as Green List (high evidence)
Cutis Laxa v0.3 ATP6V1E1 Bryony Thompson Gene: atp6v1e1 has been classified as Green List (High Evidence).
Cutis Laxa v0.2 ATP6V1E1 Bryony Thompson gene: ATP6V1E1 was added
gene: ATP6V1E1 was added to Cutis Laxa. Sources: Expert list
Mode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP6V1E1 were set to 28065471; 27023906
Phenotypes for gene: ATP6V1E1 were set to Cutis laxa, autosomal recessive, type IIC MIM#617402
Review for gene: ATP6V1E1 was set to GREEN
Added comment: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular anlayses of patient tissues was supportive.
Sources: Expert list
Cutis Laxa v0.1 Bryony Thompson Panel status changed from internal to public
Panel types changed to Royal Melbourne Hospital; Rare Disease
Cutis Laxa v0.0 PTDSS1 Bryony Thompson gene: PTDSS1 was added
gene: PTDSS1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050
Cutis Laxa v0.0 SLC2A10 Bryony Thompson gene: SLC2A10 was added
gene: SLC2A10 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome MIM#208050
Cutis Laxa v0.0 RIN2 Bryony Thompson gene: RIN2 was added
gene: RIN2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis MIM#613075
Cutis Laxa v0.0 GORAB Bryony Thompson gene: GORAB was added
gene: GORAB was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070
Cutis Laxa v0.0 PYCR1 Bryony Thompson gene: PYCR1 was added
gene: PYCR1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438
Cutis Laxa v0.0 LTBP4 Bryony Thompson gene: LTBP4 was added
gene: LTBP4 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC MIM#613177
Cutis Laxa v0.0 FBLN5 Bryony Thompson gene: FBLN5 was added
gene: FBLN5 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434
Cutis Laxa v0.0 ELN Bryony Thompson gene: ELN was added
gene: ELN was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELN were set to Cutis laxa, autosomal dominant MIM#123700
Cutis Laxa v0.0 EFEMP2 Bryony Thompson gene: EFEMP2 was added
gene: EFEMP2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB MIM#614437
Cutis Laxa v0.0 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Occipital horn syndrome MIM#304150
Cutis Laxa v0.0 ATP6V0A2 Bryony Thompson gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA MIM#219200; Wrinkly skin syndrome MIM#278250
Cutis Laxa v0.0 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA MIM#219150
Cutis Laxa v0.0 Bryony Thompson Added panel Cutis Laxa