Table 1 CLN6 gene variants and associated patient characteristics; entries are in bold for variants that have not previously been described

c.1_11del

p.M1?

LoF

VUS

PM2_P, PM2_P, PVS1_P

Late-infantile

1

Saudi Arabia

c.83G > A

p.R28K

Missense

VUS

PP3, PM2_P, PM3

Juvenile

2, 8.5

4

Oman (3), Saudi Arabia

c.84-1G > A

p.?

LoF

LP

PVS1_S, PM2_P, PM3_P

Juvenile

1

Sri Lanka

c.115C > G

p.R39G

Missense

VUS

PM2_P

Juvenile

1

Lebanon

c.144G > A

p.W48*

LoF

LP

PVS1, PM2_P

Late-infantile

1

Jordan

c.-158_83del

p.?

LoF

LP

PVS1_S, PM2_P, PM3_P

Late-infantile

1

United Arab Emirates

c.-158_83dup

p.?

LoF

VUS

PM2_P, PVS1_S

Late-infantile

1

Saudi Arabia

c.164A > C

p.N55T

Missense

VUS

PM2_P, PP3

Juvenile

13

1

Egypt

c.177C > G

p.D59E

Missense

VUS

PM2_P, PP3

Juvenile

7.0

1

Morocco

c.214G > T

p.E72*

LoF

P

PM2_P, PVS1_VS, PM2_M, PS3_P

Late-infantile

1

Lebanon

c.224del

p.P75Hfs*41

LoF

LP

PVS1, PM2_P

Late-infantile

1

Iran

c.244G > C ^‡

p.G82R

Missense

VUS

PM2_P, PP3, PP1_P

Late-infantile

1

Mexico

c.247G > A

p.D83N

Missense

VUS

PM2_P, PP3, PM3_P

Late-infantile

4.7

2 (1)

Egypt

c.248A > G

p.D83G

Missense

VUS

PM2_P, PM3_P

Late-infantile

1

Saudi Arabia

c.257A > G

p.H86R

Missense

VUS

PM3, PP3, PM2_P

Late-infantile

3.0, 4.0

5

Egypt

c.281C > T

p.P94L

Missense

VUS

PM2_P

Late-infantile

1

Egypt

c.299 T > G

p.L100R

Missense

VUS

PM2_P, PP3, PM3_P

Late-infantile

1

Egypt

c.308G > A ^§

p.R103Q

Missense

LP

PM5, PM3, PM2_P, PP1, PP3

Adult

1

Colombia

c.316dup

p.R106Pfs*26

LoF

P

PVS1_VS, PM2P_P, PM3

Late-infantile

3.1, 5.1

2

Pakistan, Saudi Arabia

c.350 T > G

p.I117S

Missense

VUS

PM2_P, PP3, PM3_P

Adult

1

Lebanon

c.379C > T

p.H127Y

Missense

VUS

PM2_P, PP3, PM3_P

Late-infantile

5.5

1

Turkey

c.395_396del

p.S132Cfs*18

LoF

P

PVS1_VS, PM3, PM2_P

Late-infantile

3.0, 3.1, 4.0, 4.1

6 (1)

Saudi Arabia (3), Egypt (2), Turkey

c.397_398del

p.V133Qfs*17

LoF

P

PVS1_VS, PM2_P, PM3

Late-infantile

0.1

2

Iran

c.406C > T

p.R136C

Missense

LP

PM2_P, PP3, PM3, PP1_P, PM5

Late-infantile

3.5

1

Egypt

c.407G > A

p.R136H

Missense

LP

PM2_P, PP3, PM3_S, PM5

Late-infantile

3.4

2

Tunisia, Libya

c.434A > C

p.H145P

Missense

VUS

PM2_P, PP3

Late-infantile

1

Egypt

c.434A > G

p.H145R

Missense

VUS

PM2_P, PP3

Late-infantile

1

Saudi Arabia

c.445C > T

p.R149C

Missense

VUS

PM2_P, PP3, PM5, PM3_P

Late-infantile

1

Egypt

c.461_463del

p.I154del

In-frame

P

PM4, PM2_P, PS3_P, PM3_S, PP1_M

Late-infantile

4

Brazil (2), Turkey, Algeria

c.476C > T

p.P159L

Missense

VUS

PM2_P, PP3, PM3

Late-infantile

2.1, 3.0

3

Iran (2), Turkey

c.486 + 2 T > A

p.?

LoF

LP

PVS1_S, PM2_P, PM3_P

Late-infantile

6.1

1

Egypt

c.486 + 2 T > C

p.?

LoF

LP

PVS1_S, PM2_P, PM3_P

Late-infantile

3.0

1

Tunisia

c.543-2A > G

p.?

LoF

LP

PVS1_S, PM2_P, PM3_P

Late-infantile

2.9

1

Egypt

c.552del^‡

p.F185Sfs*21

LoF

LP

PVS1_VS, PM2_P

Late-infantile

1

Mexico

c.587G > T

p.C196F

Missense

VUS

PM2_P

Late-infantile

1

Iran

c.659A > C

p.Y220S

Missense

VUS

PM2_P, PP3, PM3_M

Late-infantile

1

Iran

c.662A > C

p.Y221S

In-frame

VUS

PM3, PP1, PM2_P

Late-infantile

5.0

4 (1)

Lebanon (3), Pakistan

c.715_717del

p.F239del

In-frame

VUS

PM2_P, PM4

Late-infantile

1

Egypt

c.757_759del

p.L253del

In-frame

VUS

PM2_P, PM3_P, PM4

Late-infantile

1

Egypt

c.765_785del

p.D256_L262del

Missense

VUS

PM4, PM2_P, PM3_P

Late-infantile

4.0

1

Pakistan

c.768C > G

p.D256E

Missense

LP

PP1_S, PM2_P, PP3, PM3

Teenage

15

1

Pakistan

c.773A > G

p.N258S

Missense

VUS

PM2_P, PP3, PM3_P, PP1_M

Late-infantile

4.0

3 (1)

Saudi Arabia

c.775G > A^§

p.G259S

In-frame

VUS

PM2_P, PP3, PM3_P

Adult

1

Colombia

c.794_796del

p.S265del

Missense

LP

PM2_P, PP1, PM3, PM4

Late-infantile

3.0, 3.0, 3.0, 3.5, 3.5, 4.0, 5.0, 5.6

30 (2)

Egypt (7), Iraq, Jordan (2), Kuwait (4), Lebanon (7), Saudi Arabia (9)

c.829_836delinsCCT^¶

p.V277Pfs*5

LoF

P

PM2_P, PVS1_S, PM3_S

Late-infantile

1

Brazil