IBMFS genetics and inheritance patterns
| Syndrome . | Defect . | Gene . | Inheritance pattern . |
|---|---|---|---|
| Fanconi anemia7 | FA/BRCA pathway double-strand break DNA repair and maintenance | FANCA | AR |
| FANCB | XLR | ||
| FANCC | AR | ||
| FANCD1/BRCA2 | AR | ||
| FAND2 | AR | ||
| FANCE | AR | ||
| FANCF | AR | ||
| FANCG/XRCC9 | AR | ||
| FANCI/KIAA1794 | AR | ||
| FANCJ/BRIP1/BACH1 | AR | ||
| FANCL | AR | ||
| FANCM | AR | ||
| FANCN/PALB2 | AR | ||
| FANCO/RAD51C | AR | ||
| FANCP/SLX4 | AR | ||
| FANCQ/ERCC4 | AR | ||
| FANCR/RAD51 | AD | ||
| FANCS/BRCA1 | AR | ||
| FANCT/UBE2T | AR | ||
| FANCU/XRCC2 | AR | ||
| FANCV/REV7/MAD2L2 | AR | ||
| Telomere biology disorders18,52 | Telomere maintenance | ACD | AD or AR |
| CTC1 | AR | ||
| DKC1 | XLR | ||
| NAF1 | AD | ||
| NHP2 | AD | ||
| NOP10 | AD | ||
| PARN | AD or AR | ||
| POT1 | AR | ||
| RTEL1 | AD or AR | ||
| TERC | AD | ||
| TERT | AD or AR | ||
| TINF2 | AD | ||
| WRAP53 | AR | ||
| STN1/OBFC1 | AR | ||
| Diamond-Blackfan anemia28,53 | Ribosome biogenesis | GATA1 | XLR |
| RPL5 | AD | ||
| RPL11 | AD | ||
| RPL15 | AD | ||
| RPL18 | AD | ||
| RPL26 | AD | ||
| RPL27 | AD | ||
| RPL31 | AD | ||
| RPL35 | AD | ||
| RPL35A | AD | ||
| RPS7 | AD | ||
| RPS10 | AD | ||
| RPS17 | AD | ||
| RPS19 | AD | ||
| RPS24 | AD | ||
| RPS26 | AD | ||
| RPS27 | AD | ||
| RPS28 | AD | ||
| RPS29 | AD | ||
| TSR2 | XLR | ||
| GATA2 deficiency syndrome32 | Hematopoietic differentiation and stem cell pool maintenance | GATA2 | AD |
| Shwachman-Diamond syndrome37-40 | Ribosome maturation | DNAJC21/HSP40 | AR |
| EFL1 | AR | ||
| SBDS | AR | ||
| Severe congenital neutropenia43,44 | Decreased production or premature apoptosis of neutrophils or their precursors | CSF3R | AR |
| ELANE | AD | ||
| G6PC3 | AR | ||
| GFI1 | AD | ||
| HAX1 | AR | ||
| JAGN1 | AR | ||
| VPS45 | AR | ||
| WAS | XLR | ||
| Thrombocytopenia absent radii54 | Deficiency of exon-junction complex Y14 | RBM8A | AR |
| Syndrome . | Defect . | Gene . | Inheritance pattern . |
|---|---|---|---|
| Fanconi anemia7 | FA/BRCA pathway double-strand break DNA repair and maintenance | FANCA | AR |
| FANCB | XLR | ||
| FANCC | AR | ||
| FANCD1/BRCA2 | AR | ||
| FAND2 | AR | ||
| FANCE | AR | ||
| FANCF | AR | ||
| FANCG/XRCC9 | AR | ||
| FANCI/KIAA1794 | AR | ||
| FANCJ/BRIP1/BACH1 | AR | ||
| FANCL | AR | ||
| FANCM | AR | ||
| FANCN/PALB2 | AR | ||
| FANCO/RAD51C | AR | ||
| FANCP/SLX4 | AR | ||
| FANCQ/ERCC4 | AR | ||
| FANCR/RAD51 | AD | ||
| FANCS/BRCA1 | AR | ||
| FANCT/UBE2T | AR | ||
| FANCU/XRCC2 | AR | ||
| FANCV/REV7/MAD2L2 | AR | ||
| Telomere biology disorders18,52 | Telomere maintenance | ACD | AD or AR |
| CTC1 | AR | ||
| DKC1 | XLR | ||
| NAF1 | AD | ||
| NHP2 | AD | ||
| NOP10 | AD | ||
| PARN | AD or AR | ||
| POT1 | AR | ||
| RTEL1 | AD or AR | ||
| TERC | AD | ||
| TERT | AD or AR | ||
| TINF2 | AD | ||
| WRAP53 | AR | ||
| STN1/OBFC1 | AR | ||
| Diamond-Blackfan anemia28,53 | Ribosome biogenesis | GATA1 | XLR |
| RPL5 | AD | ||
| RPL11 | AD | ||
| RPL15 | AD | ||
| RPL18 | AD | ||
| RPL26 | AD | ||
| RPL27 | AD | ||
| RPL31 | AD | ||
| RPL35 | AD | ||
| RPL35A | AD | ||
| RPS7 | AD | ||
| RPS10 | AD | ||
| RPS17 | AD | ||
| RPS19 | AD | ||
| RPS24 | AD | ||
| RPS26 | AD | ||
| RPS27 | AD | ||
| RPS28 | AD | ||
| RPS29 | AD | ||
| TSR2 | XLR | ||
| GATA2 deficiency syndrome32 | Hematopoietic differentiation and stem cell pool maintenance | GATA2 | AD |
| Shwachman-Diamond syndrome37-40 | Ribosome maturation | DNAJC21/HSP40 | AR |
| EFL1 | AR | ||
| SBDS | AR | ||
| Severe congenital neutropenia43,44 | Decreased production or premature apoptosis of neutrophils or their precursors | CSF3R | AR |
| ELANE | AD | ||
| G6PC3 | AR | ||
| GFI1 | AD | ||
| HAX1 | AR | ||
| JAGN1 | AR | ||
| VPS45 | AR | ||
| WAS | XLR | ||
| Thrombocytopenia absent radii54 | Deficiency of exon-junction complex Y14 | RBM8A | AR |
Genes are listed in alphabetical order and those in bold are the most common cause(s) of each syndrome. In the telomere biology disorder section, TERT is bolded as the most common cause of adult onset pulmonary fibrosis predominant presentations. Genes in this table are updated from the specific citations listed for each syndrome. In some cases the variant gene has been identified in a limited number of individuals. Other resources include https://www.ncbi.nlm.nih.gov/gene and https://www.omim.