1 |
15 |
Focal, combined (DP) |
PLA2G6
|
ENST00000332509;c.835delA;p.Ile279SerfsTer26†
|
AR, CH |
LP (PVS1PM2) |
|
|
|
|
ENST00000332509;c.991G>T;p.Asp331Tyr†
|
|
LP (PM2PP2-5) |
2 |
10 |
Generalised, combined (DP) |
PLA2G6
|
ENST00000332509;c.2222G>A;p.arg742Gln |
AR, Hm |
P (PP5PM2,5PP2) |
3*
|
18 |
Generalised, combined (DP) |
PLA2G6
|
ENST00000332509;c.2222G>A;p.arg742Gln |
AR, Hm |
P (PP5PM2,5PP1,2) |
4*
|
19 |
Generalised, combined (DP) |
PLA2G6
|
ENST00000332509;c.2222G>A;p.arg742Gln |
AR, Hm |
P (PP5PM2,5PP1,2) |
5 |
7 |
Generalised, isolated |
GLB1
|
ENST00000307363;c.246-2A>G |
AR, CH |
P (PVS1PM2PP3) |
|
|
|
|
ENST00000307363;c.1325G>A;p.Arg442Gln |
|
P (PP5PM2,3PP2,3) |
6*
|
4 |
Generalised, combined (DP) |
GLB1
|
ENST00000307363;c.1325G>A;p.Arg442Gln |
AR, CH |
P (PP5PM2PP1-3) |
|
|
|
|
ENST00000307363;c.1022G>T;p.Gly341Val†
|
|
LP (PM2,3PP1-3) |
7*
|
3 |
Generalised, combined (DP) |
GLB1
|
ENST00000307363;c.1325G>A;p.Arg442Gln |
AR, CH |
P (PP5PM2PP1-3) |
|
|
|
|
ENST00000307363;c.1022G>T;p.Gly341Val†
|
|
LP (PM2,3PP1-3) |
8 |
1 |
Multifocal, combined (DCh) |
GCH1
|
ENST00000491895;c.542T>C;p.Val181Ala†
|
AR, Hm |
LP (PM1,2PP2,3) |
9 |
1 |
Generalised, complex (DId) |
GCH1
|
ENST00000491895;c.614T>C;p.Val205Ala†
|
AR, CH |
LP (PM1,2,5PP2,3) |
|
|
|
|
ENST00000491895;c.610G>A;p.Val204Ile |
|
LP (PM1,2PP2,3) |
10 |
11 |
Generalised, isolated |
TOR1A
|
ENST00000351698;c.907_909del;p.Glu303del |
AD, Ht |
P (PP5PS3PM1,2,4PP3) |
11 |
8 |
Multifocal, isolated |
TOR1A
|
ENST00000351698;c.907_909del;p.Glu303del |
AD, Ht |
P (PP5PS3PM1,2,4PP3) |
12 |
20 |
Generalised, isolated |
TH
|
ENST00000381178;c.525delG;p.Leu176SerfsTer61†
|
AR, CH |
LP (PVS1PM2) |
|
|
|
|
ENST00000381178:c.1481C>T;p.Thr494Met†
|
|
LP (PM2PP2,3,5) |
13 |
17 |
Multifocal, combined (DCh) |
TH
|
ENST00000381178;c.1117C>T;p.Arg373Cys†
|
AR, Hm |
LP (PM1,2PP2,3) |
14 |
20 |
Generalised, isolated |
PRKN
|
ENST00000366898;c.124C>T;p.Arg42Cys†
|
AR, CH |
LP (PM1,2,5PP2,3) |
|
|
|
|
ENST00000366898;c.1076G>A;p.Gly359Asp†
|
|
LP (PM1,2PP2,3) |
15 |
17 |
Segmental, combined (DP) |
PRKN
|
ENST00000366898;c.(171+1_172-1)_(412+1_413-1)del†
|
AR, Hm |
|
16 |
43 |
Multifocal, isolated |
THAP1
|
ENST00000254250;c.71+1G>C†
|
AD, Ht |
LPVS1PM2PP3) |
17 |
6 |
Generalised, complex (DS) |
NDUFA12
|
ENST00000327772;c.60_61delCCinsT;p.Arg21GlufsTer18†
|
AR, Hm |
LP (PVS1PM2) |
18 |
13 |
Generalised, complex (DCo) |
ATP7B
|
ENST00000242839;c.3485C>T;p.Ser1162Phe†
|
AR, Hm |
P (PS3PM1,2PP2-4) |
19 |
10 |
Generalised, complex (DC) |
FA2H
|
ENST00000219368;c.130C>A;p.Pro44Thr†
|
AR, Hm |
LP (PM1,2,5) |
20 |
2 |
Generalised, complex (DCo) |
NPC1
|
ENST00000269228;c.2473T>C;p.Tyr825His†
|
AR, Hm |
LP (PM2,5PP2,3) |