| 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 |
ClinGen Dosage Sensitivity Curation Page