Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-related, 4; Pfbmft4
Genes related to Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-related, 4; Pfbmft4
- PARN
Clinical Features
Phenotypes and symptoms related to Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-related, 4; Pfbmft4
- Abnormal lung morphology
- Bone marrow hypocellularity
- Pulmonary fibrosis
- Premature graying of hair
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Pulmonary Fibrosis And/or Bone Marrow Failure, Telomere-related, 4; Pfbmft4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Comprehensive Pulmonary Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)
View the complete list with 73 more genes
Specificity
2 %
Genes
100 % |
Hermansky-Pudlak and Pulmonary Fibrosis Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, TERC, TERT, TINF2, NKX2-1, HPS3, HPS4, RTEL1, HPS5, DTNBP1, HPS6, BLOC1S3, CSF2RA, ELMOD2, DKC1, ABCA3 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
Inherited Bone Marrow Failure Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)
View the complete list with 41 more genes
Specificity
2 %
Genes
100 % |
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel.
By Genetic Services Laboratory University of Chicago (United States).
TERC, TERT, TINF2, NHP2, NOP10, RTEL1, POT1, ACD, NAF1, WRAP53, USB1, CTC1, DKC1, PARN
Specificity
8 %
Genes
100 % |
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BLM, BRCA1, BRCA2, SRP72, TERC, TERT, TINF2, TP53, WAS , (...)
View the complete list with 58 more genes
Specificity
2 %
Genes
100 % |
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
TERC, TERT, TINF2, NHP2, NOP10, RTEL1, WRAP53, CTC1, DKC1, PARN
Specificity
10 %
Genes
100 % |
Interstitial Lung Disease Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2, HPS4, RTEL1, CFTR, CSF2RB, FLCN, DKC1, ABCA3 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Dyskeratosis Congenita (DC) via PARN Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
PARN
Specificity
100 %
Genes
100 % |
You can get up to 18 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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