Neurodegeneration With Brain Iron Accumulation(NBIA) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Neurodegenerative 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 | PLA2G6/8398 | phospholipase A2 group VI | 22q13.1 | Chr22, NC_000022.11 (38111495..38181830, complement) |
70336 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | C19orf12/83636 | chromosome 19 open reading frame 12 | 19q12 | Chr19, NC_000019.10 (29698886..29715789, complement) |
16904 nt | 7 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | WDR45/11152 | WD repeat domain 45 | Xp11.23 | ChrX, NC_000023.11 (49074442..49101178, complement) |
26737 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | COASY/80347 | Coenzyme A synthase | 17q21.2 | Chr17, NC_000017.11 (42562148..42566277) |
4130 nt | 9 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | FA2H/79152 | fatty acid 2-hydroxylase | 16q23.1 | Chr16, NC_000016.10 (74712969..74774820, complement) |
61852 nt | 8 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 6 | CRAT/1384 | carnitine O-acetyltransferase | 9q34.11 | Chr9, NC_000009.12 (129094794..129110793, complement) |
16000 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 7 | REPS1/85021 | RALBP1 associated Eps domain containing 1 | 6q24.1 | Chr6, NC_000006.12 (138903493..138988253, complement) |
84761 nt | 21 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 8 | ATP13A2/23400 | ATPase cation transporting 13A2 | 1p36.13 | Chr1, NC_000001.11 (16985958..17011928, complement) |
25971 nt | 29 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 9 | DCAF17/80067 | DDB1 and CUL4 associated factor 17 | 2q31.1 | Chr2, NC_000002.12 (171434226..171485052) |
50827 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 10 | FTH1/2495 | ferritin heavy chain 1 | 11q12.3 | Chr11, NC_000011.10 (61964285..61967634, complement) |
3350 nt | 4 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||