Table 1 Families with novel allelic disorders described in this manuscript for the first time
Pedigree | ID number | Disease Name | Phenotype-specific OMIM ID | Gene | Variant | Zygosity |
|---|---|---|---|---|---|---|
F141 | 08DG-00413 | OTX2-related retinal degeneration with female infertility | Not listed | OTX2 | NM_001270525.2:r.98_273del;p.(Pro34Metfs*3) | Homozygous |
F2179 | 11DG1507 | ZFHX4-related cone rod dystrophy | Not listed | ZFHX4 | NM_024721.5:c.5020 C > T;p.(Gln1674*) | Heterozygous |
F2593 | 12DG0172 | IFT140-related LCA | Not listed | IFT140 | NM_014714.4:c.1990G>A;p.(Glu664Lys) | Homozygous |
F2924 | 12DG1193 | NOTCH2-related retinitis pigmentosa | Not listed | NOTCH2 | NM_024408.4:c.1619C>T;p.(Pro540Leu) | Homozygous |
F4143 | 14DG0621 | UNC80-related arthrogryposis | Not listed | UNC80 | NM_032504.2:c.7948 G > A;p.(Gly2650Arg) | Homozygous |
F4367 | 14DG1509 | HADHB-related non-syndromic neuropathy | Not listed | HADHB | NM_000183.2:c.712 C > T;p.(Arg238Trp) | Homozygous |
F454 | 09DG00739 | NOTCH2-related retinitis pigmentosa | Not listed | NOTCH2 | NM_024408.4:c.1619C>T;p.(Pro540Leu) | Homozygous |
F4607 | 14DG2149 | SCLT1-related BBS | Not listed | SCLT1 | NM_144643.4:c.778_780del;p.(Glu260del) | Homozygous |
F5409 | 15DG2563 | FZD6-related nonimmune hydrops fetalis | Not listed | FZD6 | ENST00000358755.4:c.869 A > G;p.(Tyr290Cys) | Homozygous |
F6581 | 19DG0549 | COL25A1-related fetal akinesia | Not listed | COL25A1 | NM_198721.4:c.1598delC;p.(Pro533Hisfs*77) | Homozygous |
F6582 | 19DG0552 | COL25A1-related fetal akinesia | Not listed | COL25A1 | Large deletion involving COL25A1 and ZCCHC23 | Homozygous |
F6666 | 19DG0767 | ABL1-related mirror image of CHDSKM | Not listed | ABL1 | NM_005157.6:c.1966_2011dupCCAGCCAAGTCCCCAAAGCCCAGCAATGGGGCTGGGGTCCCCAATG;p.(Gly671Alafs*93) | Homozygous |
F7600 | 19DG2397 | CALIFAN syndrome | Not listed | SCYL1 | NM_020680.4:c.1386+1 G > T | Homozygous |
F8309 | PSMMC-0377 | AKT3-related NDD with microcephaly | Not listed | AKT3 | Large deletion chr1:238817161-249224684 involving ZBTB18, HNRNPU, and AKT3 | Heterozygous |
F8485 | PSMMC-0385 | KCNMA1-related NDD | Not listed | KCNMA1 | Chr10:79364485-79611505 duplication spanning KCNMA1 | Heterozygous |
F9597 | 22DG1526 | RHOBTB2-related neurodevelopmental disorder | Not listed | RHOBTB2 | NM_015178.3:c.394 C > T;p.(Arg132*) | Homozygous |
F9792 | Fetus of 23DG1304 | VPS50-related hydrocephalus | Not listed | VPS50 | NM_017667.4:c.1705C>T;p.(Arg569*) | Homozygous |
F4216 | 14DG0915 | COL2A1-related arthrogryposis | Not listed | COL2A1 | NM_001844.5:c.985 C > T;p.(Pro329Ser) | Homozygous |
F8629 | 21DG0260 | TALDO1-related ovarian insufficiency | Not listed | TALDO1 | NM_006755.2:c.486_500dup;p.(His163_Thr167dup) | Homozygous |
