Table 1.
Referral indications for PGT-M with a kidney component
| Condition | Gene | Inheritance | N = 389 (%) | Penetrance (C/I) | Primary presenting feature (renal/others) |
|---|---|---|---|---|---|
| ABCC8-related hyperinsulinism | ABCC8 | AD/AR | 5 (1.29) | I (AD)/C (AR) | Others |
| Alagille syndrome | JAG1 | AD | 2 (0.51) | C | Others |
| Alport syndrome | COL4A5/COL4A4/COL4A3 | XL/AD/AR | 34 (8.74) | I (AD)/C (AR,XL) | Renal |
| Alstrom syndrome | ALMS1 | AR | 1 (0.26) | C | Renal |
| Autosomal dominant LMNA-related conditions | LMNA | AD | 3 (0.77) | C | Others |
| Autosomal dominant polycystic kidney disease | PKD1/PKD2 | AD | 64 (16.45) | C | Renal |
| Autosomal recessive polycystic kidney disease | PKHD1 | AR | 26 (6.68) | C | Renal |
| Autosomal recessive TMEM67-related disorders | TMEM67 | AR | 1 (0.26) | C | Others |
| Bardet-Biedl syndrome | BBS1/BBS12 | AR | 5 (1.29) | I | Others |
| Birt-Hogg-Dube syndrome | FLCN | AD | 2 (0.51) | C | Others |
| CPT II deficiency | CPT2 | AR | 4 (1.03) | C | Others |
| COL4A1-related disorder | COL4A1 | AD | 1 (0.26) | I | Renal |
| Congenital disorder of glycosylation type 1a | PMM2 | AR | 2 (0.51) | C | Others |
| Congenital Finnish nephrosis | NPHS1 | AR | 2 (0.51) | C | Renal |
| Diamond-Blackfan anemia | RPS19/RPS24 | AD | 3 (0.77) | I | Others |
| Donnai-Barrow syndrome | LRP2 | AR | 3 (0.77) | C | Others |
| EEC | TP63 | AD | 4 (1.03) | I | Others |
| Fabry disease | GLA | XL | 18 (4.63) | C | Others |
| Familial Mediterranean fever | MEFV | AR | 39 (10.03) | C | Others |
| Familial TTR amyloidosis − ND | TTR | AD | 1 (0.26) | I | Others |
| Fanconi anemia | FANCF/FANCC/PALB2 | AR | 7 (1.80) | C | Others |
| FOXP3-related disorder | FOXP3 | XL | 4 (1.03) | C | Others |
| Fraser syndrome | FRAS1 | AR | 3 (0.77) | C | Others |
| GLI3-related disorders | GLI3 | AD | 1 (0.26) | I | Others |
| Glycogen storage disease type 1B | SLC37A4 | AR | 2 (0.51) | C | Others |
| Glycogen storage disease, type II | GAA | AR | 1 (0.26) | C | Others |
| HUS | CFH | AD/AR | 1 (0.26) | I (AD)/C (AR) | Renal |
| Hyperaldosteronism, familial, type 4 | CACNA1H | AD | 2 (0.51) | I | Others |
| Hypophosphatasia | ALPL | AR | 2 (0.51) | C | Others |
| Joubert/Meckel syndrome | NPHP1/CSPP1/TMEM216/ | AR | 8 (2.06) | C | Others |
| TTC21B/CEP290 | |||||
| Kallmann syndrome | FGFR1 | AD | 4 (1.03) | I | Others |
| Lesch Nyhan | HPRT1 | XL | 2 (0.51) | C | Others |
| Lowe syndrome | OCRL | XL | 1 (0.26) | C | Renal |
| Meckel-Gruber syndrome | MKS1/TMEM67 | AR | 4 (1.03) | C | Others |
| Nephrogenic diabetes insipidus | AVPR2 | XL | 5 (1.29) | C | Renal |
| NPH | ANKS6 | AR | 1 (0.26) | C | Renal |
| Nephrotic syndrome, type 5, with or without | |||||
| ocular abnormalities | LAMB2 | AR | 1 (0.26) | C | Renal |
| Neurofibromatosis, type 1 | NF1 | AD | 39 (10.03) | C | Others |
| Noonan syndrome | PTPN11/SOS1 | AD | 9 (2.31) | C | Others |
| Plasminogen deficiency, type I | PLG | AR | 1 (0.26) | C | Others |
| Primary coenzyme Q10 deficiency | COQ4 | AR | 1 (0.26) | C | Others |
| Primary hyperoxaluria type 1 | AGXT | AR | 2 (0.51) | C | Renal |
| Primary hyperoxaluria, type 3 | HOGA1 | AR | 1 (0.26) | C | Renal |
| RCAD | HNF1B | AD | 1 (0.26) | C | Renal |
| SGBS | GPC3 | XL | 4 (1.03) | C | Others |
| Smith-Lemli-Opitz syndrome | DHCR7 | AR | 22 (5.66) | C | Others |
| Transient antenatal Bartter's syndrome | MAGED2 | XL | 1 (0.26) | C | Others |
| Tuberous sclerosis | TSC1 | AD | 17 (4.37) | C | Others |
| Von Hippel Lindau | VHL | AD | 10 (2.57) | C | Others |
| Wilson disease | ATP7B | AR | 12 (3.08) | C | Others |
AD, autosomal dominant; AR, autosomal recessive; XL, X-linked; C, complete penetrance; I, incomplete penetrance; SGBS, Simpson-Golabi-Behmel syndrome; RCAD, renal cysts and diabetes syndrome; NPH, nephronophthisis; HUS, hemolytic uremic syndrome; EEC, ectrodactyly-ED-clefting syndrome; CPT II, carnitine palmitoyltransferase II.