Lamellar Ichthyosis Explore Disorder's Alias
An Autosomal recessive mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal recessive 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 | TGM1/7051 | transglutaminase 1 | 14q12 | Chr14, NC_000014.9 (24249114..24263177, complement) |
14064 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ABCA12/26154 | ATP binding cassette subfamily A member 12 | 2q35 | Chr2, NC_000002.12 (214931542..215138626, complement) |
207085 nt | 55 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | SLC27A4/10999 | solute carrier family 27 member 4 | 9q34.11 | Chr9, NC_000009.12 (128340527..128361470) |
20944 nt | 14 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | NIPAL4/348938 | NIPA like domain containing 4 | 5q33.3 | Chr5, NC_000005.10 (157460213..157474722) |
14510 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | CYP4F22/126410 | cytochrome P450 family 4 subfamily F member 22 | 19p13.12 | Chr19, NC_000019.10 (15508525..15552317) |
43793 nt | 16 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | ALOX12B/242 | arachidonate 12-lipoxygenase, 12R type | 17p13.1 | Chr17, NC_000017.11 (8072636..8087716, complement) |
15081 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | CERS3/204219 | ceramide synthase 3 | 15q26.3 | Chr15, NC_000015.10 (100400395..100544683, complement) |
144289 nt | 15 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | PNPLA1/285848 | patatin like phospholipase domain containing 1 | 6p21.31 | Chr6, NC_000006.12 (36243168..36313955) |
70788 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | ALOXE3/59344 | arachidonate lipoxygenase 3 | 17p13.1 | Chr17, NC_000017.11 (8095900..8118916, complement) |
23017 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |