Renal Tubular Dysgenesis(Allanson Pantzar McLeod syndrome)
An Autosomal recessive mode(s) within the Nephrological disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Nephrological 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 | REN/5972 | renin | 1q32.1 | Chr1, NC_000001.11 (204154819..204166337, complement) |
11519 nt | 10 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ACE/1636 | angiotensin I converting enzyme | 17q23.3 | Chr17, NC_000017.11 (63477061..63498373) |
21313 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | AGTR1/185 | angiotensin II receptor type 1 | 3q24 | Chr3, NC_000003.12 (148697903..148743003) |
45101 nt | 5 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | AGT/183 | angiotensinogen | 1q42.2 | Chr1, NC_000001.11 (230702523..230745583, complement) |
43061 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 5 | EBF3/253738 | EBF transcription factor 3 | 10q26.3 | Chr10, NC_000010.11 (129835233..129964274, complement) |
129042 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative Human Phenotype Ontology NORD | ||||||||
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