ClinGen Dosage Sensitivity Curation Page

Pathogenic CNV regions

Links

Region name Location on GRCh37 Haploinsufficiency score Triplosensitivity score
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) chr15:32019621-32445405 3 40: Dosage sensitivity unlikely
15q25.2 recurrent region (LCR B-C, proximal) chr15:83213988-84714733 3 0
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) chrX:154118603-154564401 3 3
1q43q44 terminal region (includes AKT3) chr1:243287730-245318287 3 0
16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1) chr16:28822635-29046499 3 1
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) chr15:23747996-28379874 3 3
Xp11.23 region (includes MAOA and MAOB) chrX:43514154-43741720 3 0
7q36.3 ZRS (SHH cis-regulatory) duplication region (within LMBR1 intron 5) chr7:156583796-156584568 0 3
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) chr22:18912231-21465672 3 3
11p15 region (includes H19, KCNQ1) chr11:2016406-2906995 0 3
11p15.5 region (Imprinting Control Region 1) chr11:2019075-2024375 3 0
3q29 recurrent region (includes DLG1) chr3:195756054-197344662 3 2
6q24 region (includes PLAGL1) chr6:144243292-144416561 1 3
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) chr11:43894800-46152450 3 0
Xq28 recurrent region (includes GDI1) chrX:153624564-153783898 0 3
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) chr17:14097915-15422952 3 3
7q21.2q21.3 region (includes SHFM1) chr7:95533860-96779486 Not yet evaluated Not yet evaluated
1p36 terminal region (includes GABRD) chr1:834083-6289973 3 2
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) chr22:18912231-20287208 3 3
17q12 recurrent (RCAD syndrome) region (includes HNF1B) chr17:34815072-36192489 3 3
17q11.2 recurrent region (includes NF1) chr17:29097069-30264027 3 3
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) chr17:1247833-2588909 3 3
4p16.3 terminal (Wolf-Hirshhorn syndrome) region chr4:331568-2010962 3 2
5q35 recurrent (Sotos syndrome) region (includes NSD1) chr5:175728979-177047793 3 3
10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) chr10:81682843-88739388 3 1
8p23.1 recurrent region (includes GATA4) chr8:8100064-11766329 3 3
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) chr1:146577486-147394506 3 3
17q21.3 recurrent region (includes KANSL1) chr17:43705166-44164880 3 2
17p11.2 recurrent (SMS/PLS) region (includes RAI1) chr17:16810028-20213202 3 3
Xp22.31 recurrent region (includes STS) chrX:6455812-8124954 3 40: Dosage sensitivity unlikely
16p13.11 recurrent region (includes MYH11) chr16:15511711-16292265 3 2
12q14 region (includes GRIP1 and HMGA2) chr12:65071919-68645525 Not yet evaluated Not yet evaluated
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) chr15:31192889-32445405 3 1
2p15p16.1 region (includes BCL11A) chr2:59139200-62488871 3 1
16p13.3 region (includes CREBBP) chr16:3775056-3930121 3 1
2q13 recurrent region (includes NPHP1) chr2:110862108-110983703 30: Gene associated with autosomal recessive phenotype 40: Dosage sensitivity unlikely
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) chr15:22832519-28379874 3 3
22q13 region (includes SHANK3) chr22:51045516-51178945 3 0
11p13 (WAGR syndrome) region chr11:31803509-32510988 3 1
16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) chr16:29649997-30199852 3 3
9q34.3 telomere region (includes EHMT1) chr9:140513444-140730578 3 0
22q11.2 recurrent region (distal type I, D-E/F) chr22:21917117-23649111 3 3
15q24 recurrent region (A-D) (includes SIN3A) chr15:72963715-75972909 3 1
2q37.3 terminal region (includes HDAC4) chr2:239954693-242930600 3 0
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) chr22:17392953-18591860 0 3
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) chr7:72744455-74142510 3 3
5p15 terminal (Cri du chat syndrome) region chr5:37693-11347262 3 2