PC | AO | GDD | IS | GENE | OMIM | REF SEC | NT CHANGE | AA CH | MT | SS | PP | CS | ZIG | MD | BA | DIAGNOS |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P1 | 2Y | 10Y | Mod | CLN5 | 608102 | NM_006493 | c.335G > C/c.835G > A | p.R112P/p.D279N | 099/0.99 | 0/0.16 | 1/1 | + | HO | + | NA | Finnish variant late infantile CLN |
P2 | 4Y | 4Y | Mod | CLN6 | 606725 | NM_017882 | c.794_796del | p.S265del | - | - | - | HO | + | NA | Early juvenile late infantile CLN | |
P3 | 3Y | 12Y | High | CLN3 | 607042 | NM_000086 | c.461-280_677 + 382del966 | p.[Gly154Alafs*29, Val155_Gly264del] | - | - | - | HO | + | NA | Juvenile CLN | |
P4 | 2Y | 21Y | Mod | MFSD8 | 611124 | NM_152778 | c.881C > A | p. T294K | 0.99 | 0 | 0.99 | + | HO | + | NA | Turkish variant late infantile CLN |
P5 | 4Y | 12Y | High | CLN3 | 607042 | NM_000086 | c.371_372insT | p.Y124fs | - | - | - | HO | - | NA | Juvenile CLN | |
P6 | 3Y | 4.5Y | High | ARSA | 607574 | NM_000487 | c.465 + 1G > A | ---------- | - | - | - | + | HO | + | + | Metachromatic leukodystrophy |
P7 | 1Y | 8Y | Low | GLB1 | 611458 | NM_000404 | c.922 T > C | p.F308L | 0.99 | 0 | 1 | + | HO | - | + | GM1 gangliosidosis |
P8 | 3Y | 1Y | High | HEXA | 606869 | NM_000520 | c.533G > A | p.R178H | 0.99 | 0 | 1 | + | HO | + | + | GM2 gangliosidosis, B1variant |
P9 | 4Y | 10Y | Low | HEXA | 606869 | NM_000520 | c.1496G > A | p.R499H | 0.99 | 0 | 1 | HT | + | + | GM2 gangliosidosis, juvenil (TS) | |
HEXA | NM_000520 | c.1003A > T | p.I335F | 0.99 | 0 | 0.97 | HT | + | ||||||||
P10 | 3Y | 7Y | High | GLB1 | 611458 | NM_000404 | c.602G > A | p.R201H | 0.99 | 0.02 | 1 | HT | + | + | GM1 gangliosidosis | |
GLB1 | NM_000404 | c.1188_1188dupG | p.P397fs | - | - | - | HT | - | ||||||||
P11 | 5Y | 18Y | High | HEXA | 606869 | NM_000520 | c.155C > A | p.S52X | - | - | - | + | HT | + | + | GM2 gangliosidosis juvenile (TS) |
HEXA | NM_000520 | c.1305C > T | p.Y435Y | - | - | - | HT | - | ||||||||
P12 | 13Y | 6Y | Low | NPC2 | NM_006432 | c.441 + 1G > A | ----------- | - | - | - | HT | - | - | Niemann-Pick disease, type C2? | ||
P13 | 18 M | 3Y | High | GNPTAB | 607840 | NM_024312 | c.2354 T > G | p.L785W | 0.71 | 0.09 | 0.022 | + | HT | - | + | Mucolipidosis II/III |
GNPTAB | NM_024312 | c.1774G > A | p.A592T | 0.98 | 0.01 | 0.955 | HT | - | ||||||||
P14 | 12 M | 4Y | High | HEXA | 606869 | NM_000520 | c.718_719insT | p.K240fs | HT | - | + | GM2 gangliosidosis (TS) | ||||
HEXA | NM_000520 | c.1003A > T | p.I335F | 0.99 | 0.00 | 0.467 | HT | + | ||||||||
P15 | 0 M | 1Y | High | GLB1 | 611458 | NM_000404 | c.671_672delAT | p.H224Qfs | + | HO | - | +* | GM1 gangliosidosis | |||
P16 | 9 M | 1Y | High | ARSB | 611542 | NM_000046 | c.382_384delCTC | p.L128del | HO | - | +* | Mucopolysaccharidosis VI | ||||
P17 | 0 M | 3Y | High | GNPTAB | 607840 | NM_024312 | c.3739_3742delCTTT | p.E1248fs | + | HO | - | + | Mucolipidosis II/III | |||
P18 | 2 M | 6Y | High | IDS | 300823 | NM_000202 | c.425C > T | p.S142F | 0.98 | 0.00 | 0.998 | + | HE | + | +* | Hunter Syndrome |
P19 | 3Y | 5Y | High | IDUA | 252800 | NM_000203 | c.1205G > A | p.W402X | + | HT | + | +* | Hurler Syndrome | |||
IDUA | NM_000203 | c.1874A > G | p.Y625C | 0.98 | 0.00 | 0.99 | HT | - | ||||||||
P20 | 10 M | 2Y | High | GLB1 | 611458 | NM_000404 | c.947A > G | p.Y316C | 0.999 | 0 | 0.79 | HT | + | +* | GM1 gangliosidosis | |
GLB1 | NM_000404 | c.458-401_552 + 1033del1529 | ----------- | HT | + | |||||||||||
P21 | 20 M | 4Y | High | HEXA | 606869 | NM_000520 | c.459 + 5G > A | ----------- | HT | + | +* | GM2 gangliosidosis (TS) | ||||
HEXA | NM_000520 | c.533G > A | p.R178H | 0.99 | 0 | 1 | HT | + | ||||||||
P22 | 2Y | 4Y | High | CLN8 | 607837 | NM_018941 | c.509C > G | p.T170R | 0.999 | 0.00 | 0.999 | + | HO | + | NA | Ceroid lipofuscinosis, neuronal, 8 |
P23 | 3Y | 9Y | High | CTSD | 116840 | NM_001909 | c.470C > T | p.S157L | 0.98 | 0.03 | 0.005 | + | HT | - | NA | Ceroid lipofuscinosis, neuronal, 10 |
CTSD | NM_001909 | c.353-12G > A | ----------- | - | - | - | HT | - | pendε | |||||||
P24 | 3Y | 23Y | High | HGSNAT | 610453 | NM_152419 | c.1250 + 1G > A | ----------- | - | - | - | HT | + | +* | Sanfilippo C | |
HGSNAT | NM_152419 | c.1270G > A | p. G424S | 0.999 | 0.59 | 1 | HT | + | ||||||||
P25 | 1Y | 6Y | High | GM2A | 613109 | NM_000405 | c.333delC | p. C112Vfs | - | - | - | HO | - | +# | GM2 gangliosidosis, AB variant | |
P26 | 4Y | >20Y | High | CLN8 | 607837 | NM_018941 | c.792C > G | p. N264K | 0.97 | 0 | 0.99 | + | HO | - | NA | Ceroid lipofuscinosis, neuronal, 8 |