22q11.2 deletion syndrome

Congenital heart defects, palatal anomalies, immune deficiency, hypocalcemia, learning difficulties. Most common microdeletion syndrome (~1:4000).

ClinGen ISCA-37446 · Haploinsufficiency 3, sufficient evidence · evaluated 2025-07-19

pHI ≥ 0.86 ≥ 0.5 ≥ 0.2 key gene ClinVar P/LP VUS B/LB segdup ≥99%

Genes colored by haploinsufficiency (pHI); the tinted band is the CNV, the grey genes lie outside it

chr22:18,924,718-21,111,3832.19 Mb44 coding genesDeletion

Reported cases ?

Section 4 · looking up ClinVar and ClinGen…

44 genes · sorted by haploinsufficiency (pHI)

Gene	Disease ?	ClinGen ?	pHI ?	pTS ?	LOEUF ?	Pred. ?	Resources
TBX1Key fully contained	—	HI 1TS 0	0.85	0.72	0.43	—	OMIM
PRODHKey partly deleted · breakpoint in gene	—	HI 30TS 0	0.39	0.53	1.10	—	OMIM
COMTKey fully contained	—	—	0.27	0.48	1.70	—	OMIM
SCARF2 fully contained	—	HI 30TS 0	0.95	0.81	0.19	—	OMIM
HIRA fully contained	—	HI 0TS 0	0.92	0.99	0.14	—	OMIM
MED15 fully contained	—	—	0.81	0.97	0.24	—	OMIM
DGCR8 fully contained	—	—	0.80	1.00	0.21	—	OMIM

One copy is lost. A pathogenic variant on the other copy of any of these genes would cause its recessive disease.

Input “22q11.2 deletion” · read as cytoband · GRCh38