ClinGen Dosage Sensitivity Curation Page

Pathogenic CNV regions

Region name Location on GRCh37 Haploinsufficiency score Triplosensitivity score
15q24 recurrent region (C-D) (includes SIN3A) chr15:75631787-75972909 3 0
13q12.12 recurrent region (includes SACS and SGCG) chr13:23544582-24881361 0 0
16p12.2 recurrent region (includes OTOA) (distal region) chr16:21570113-21740423 30: Gene associated with autosomal recessive phenotype 40: Dosage sensitivity unlikely
15q24 recurrent region (A-C) chr15:72963715-75508312 3 1
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) chr15:32019621-32445405 3 40: Dosage sensitivity unlikely
22q11.2 recurrent region (distal type III, F-G) (includes SMARCB1) chr22:23831202-24632821 3 Not yet evaluated
22q11.2 recurrent region (distal type III, D-H) (includes SMARCB1) chr22:21917117-24994433 3 2
7q11.23 recurrent distal region (includes HIP1, YWHAG) chr7:75158048-76063176 2 1
Xp11.22p11.23 recurrent region (includes SHROOM4) chrX:48306152-52103258 0 3
22q11.2 recurrent region (central, C-D) (includes CRKL) chr22:21092338-21465672 2 0
2q21.1 recurrent region (includes ARHGEF4, GPR148) chr2:131477509-131929693 1 0
15q13 recurrent region (BP3-BP4) (includes APBA2) chr15:29156959-30368990 0 0
22q11.2 recurrent region (central, B/C-D) (includes CRKL) chr22:20731986-21465672 2 1
15q25.2q25.3 recurrent region (LCR C-D, distal) chr15:85139652-85713001 1 0
17q23.1q23.2 recurrent region (includes TBX2, TBX4) chr17:58113002-60275809 3 2
15q25.2 recurrent region (LCR B-C, proximal) chr15:83213988-84714733 3 0
11q13.2q13.4 recurrent region (includes SHANK2, FGFs) chr11:67763646-71236931 2 0
10q11.2 recurrent region (LCR-C to -D) chr10:49389703-51053583 1 1
2q13 recurrent region (includes BCL2L11) chr2:111392193-113104742 2 2
2q11.2 recurrent region (includes ARID5A, LMAN2L) chr2:96739012-97671429 1 1
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) chrX:154118603-154564401 3 3
22q11.2 recurrent region (distal type II, E-F) chr22:23119414-23649111 2 1
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
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) chr15:22832519-23090897 2 40: Dosage sensitivity unlikely
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) chr22:18912231-21465672 3 3
3q29 recurrent region (includes DLG1) chr3:195756054-197344662 3 2
Xq28 recurrent region (includes GDI1) chrX:153624564-153783898 0 3
17p12 recurrent (HNPP/CMT1A) region (includes PMP22) chr17:14097915-15422952 3 3
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 2
1q21.1 recurrent (TAR syndrome) region (BP2-BP3, proximal) (includes RBM8A) chr1:145386507-145748064 1 1
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 1
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 (BP2-BP3) (includes MYH11) chr16:15511711-16292265 3 2
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) chr15:31192889-32445405 3 1
16p12.2 recurrent region (includes EEF2K, CDR2) (proximal region) chr16:21948445-22430804 2 0
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
16p11.2 recurrent region (proximal, BP4-BP5) (includes TBX6) chr16:29649997-30199852 3 3
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
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