Cutis Laxa
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive, X-linked dominant mode(s) within the Skin disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | ATP6V0A2/23545 | ATPase H+ transporting V0 subunit a2 | 12q24.31 | Chr12, NC_000012.12 (123712353..123761755) |
49403 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | LTBP4/8425 | latent transforming growth factor beta binding protein 4 | 19q13.2 | Chr19, NC_000019.10 (40593166..40629820) |
36655 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | EFEMP2/30008 | EGF containing fibulin extracellular matrix protein 2 | 11q13.1 | Chr11, NC_000011.10 (65866441..65872800, complement) |
6360 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | FBLN5/10516 | fibulin 5 | 14q32.12 | Chr14, NC_000014.9 (91869411..91947694, complement) |
78284 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | ATP7A/538 | ATPase copper transporting alpha | Xq21.1 | ChrX, NC_000023.11 (77910693..78050395) |
139703 nt | 23 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | ELN/2006 | elastin | 7q11.23 | Chr7, NC_000007.14 (74028173..74069907) |
41735 nt | 34 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | ALDH18A1/5832 | aldehyde dehydrogenase 18 family member A1 | 10q24.1 | Chr10, NC_000010.11 (95605941..95656711, complement) |
50771 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | PYCR1/5831 | pyrroline-5-carboxylate reductase 1 | 17q25.3 | Chr17, NC_000017.11 (81932391..81937300, complement) |
4910 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | EFEMP1/2202 | EGF containing fibulin extracellular matrix protein 1 | 2p16.1 | Chr2, NC_000002.12 (55865967..55923782, complement) |
57816 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | LTBP1/4052 | latent transforming growth factor beta binding protein 1 | 2p22.3 | Chr2, NC_000002.12 (32946953..33399509) |
452557 nt | 35 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 11 | GBE1/2632 | 1,4-alpha-glucan branching enzyme 1 | 3p12.2 | Chr3, NC_000003.12 (81489703..81761645, complement) |
271943 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |