Table 1.
Unpublished pathogenic variants identified in KCNJ11 (NM_000525.3)
| Protein change | Nucleotide change | Mutation type | Phenotype | Zygosity | Likely dominant or recessively acting | GnomAD MAF | Reporting laboratory |
|---|---|---|---|---|---|---|---|
| p.(Arg4Cys) | c.10C>T | Missense |
TNDM PNDM |
Heterozygous | Dominant | 0.00002150 | Exeter |
| p.(Leu17Pro) | c.50T>C | Missense | PNDM | Heterozygousdenovo | Dominant | 0 | Exeter |
| p.(Tyr26Ter) | c.78C>A | Nonsense | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Arg27Cys) | c.79C>T | Missense | HI | HeterozygousPat | Recessive | 0.000007976 | Chicago |
| p.(Lys38Glu) | c.112A>G | Missense | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Gly40Ala) | c.119G>C | Missense | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Ile49Phe) | c.145A>T | Missense | TNDM | Heterozygousdenovo | Dominant | 0 | Exeter |
| p.(Glu51Gly) | c.152A>G | Missense | PNDM | Heterozygousdenovo | Dominant | 0 | Exeter |
| p.(Arg54Cys) | c.160C>T | Missense |
HI/ Later‐onset diabetes |
Homozygous/ Heterozygous |
Recessive/ Dominant |
0.000007078 |
Exeter/ Paris |
| p.(Leu56Gly) | c.166_167delinsGG | Missense | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Thr62SerfsTer68) | c.185del | Frameshift | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Cys81AlafsTer49) | c.240del | Frameshift | HI | HeterozygousPat | Recessive | 0 | Exeter |
| p.(Asp99Tyr) | c.295G>T | Missense | HI | Heterozygousdenovo | Dominant | 0 | Paris |
| p.(Ala120CysfsTer7) | c.356dup | Frameshift | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Val129Met) | c.385G>A | Missense | NDM | Heterozygousdenovo | Dominant | 0 | Exeter |
| p.(Gly132TyrfsTer10) | c.390_393dup | Frameshift | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Cys166Trp) | c.498C>G | Missense | NDM | Heterozygous | Not known | 0 | Chicago |
| p.(Met169Thr) | c.506T>C | Missense | PNDM | Heterozygousdenovo | Dominant | 0 | Exeter |
| p.(Ala178LeufsTer11) | c.532del | Frameshift | HI | HeterozygousPat | Recessive | 0 | Exeter |
| p.(Glu179Lys) | c.535G>A | Missense | TNDM | Heterozygousdenovo | Dominant | 0 | Exeter |
| p.(Arg206His) | c.617G>A | Missense |
Later‐onset diabetes/HI |
Heterozygous/ Heterozygousdenovo /HeterozygousPat |
Not known/ Dominant/ Not known |
0 |
Paris/Paris/ Odense |
| p.(Ser208Thr) | c.623G>C | Missense | HI | Heterozygousdenovo | Dominant | 0 | Exeter |
| p.(Tyr258Ter) | c.774C>A | Nonsense | HI | HeterozygousPat | Recessive | 0 | Exeter |
| p.(His259MetfsTer61) | c.775del | Missense | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Gln279Ter) | c.835C>T | Nonsense | HI | Homozygous | Recessive | 0 | Exeter |
| p.(Gln289Ala) | c.866G>C | Missense | HI | HeterozygousPat | Recessive | 0 | Chicago |
| p.(Gly295Ser) | c.883G>A | Missense | HI | Homozygous | Recessive | 0 | Paris |
| p.(Val328Met) | c.982G>A | Missense | TNDM | Heterozygous | Dominant | 0 | Exeter |
| p.(Tyr330Asn) | c.988T>A | Missense | TNDM | Heterozygous | Dominant | 0 | Exeter |
| p.(Tyr330His) | c.988T>C | Missense | Diabetes | Heterozygous | Not known | 0 | Chicago |
| p.(Ser331Pro) | c.991T>C | Missense | PNDM | Heterozygousdenovo | Dominant | 0 | Exeter |
| p.(Gly334Ser) | c.1000G>A | Missense | PNDM | Heterozygous | Dominant | 0 | Exeter |
| p.(Gly334Arg) | c.1000G>C | Missense | PNDM | Heterozygousdenovo | Dominant | 0 | Exeter |
Note: The phenotype column highlights a new phenotype; the reporting laboratory column indicates which laboratory has identified the variant in a patient with the new phenotype. See Supporting Information data for details of inclusion criteria for variants in this table.
Abbreviations: HI, hyperinsulinism; PNDM, permanent neonatal diabetes mellitus; Ter, termination codon; TNDM, transient neonatal diabetes mellitus.