Families with more than one GLI2 variant
| Family number | Members affected | GLI2 variants | Other information | Reference |
|---|---|---|---|---|
| 25 | Proband and father | c.2081_2084del, p.Leu694fs*722; c.1760C>T, p.Pro608Leu | 19 | |
| 40 | Proband and mother | c.3555delC, p.Tyr1186Thrfs*34; c.3351C>A, p.Pro1184Gln | Previously Unpublished | |
| 30 | Proband, sister, mother, 3 maternal uncles, 2 female cousins, maternal grandmother | c.2362_2368del, p.Leu788fsX794; c.4332G>C, p.Met144Ile; c.4333 C>T, p.Leu1445Phe | Both missense variants were heterozygotes and occurred after the predicted stop codon on the same allele | 19 |
| 45 | Proband and father | c.3723G>A, p.Met1241Ile; c.4453C>G, p.Pro1485Ala | 1 |