Gene Map Search - 22q11.21

Search: '22q11.21 '

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Genomic context table	Location (from NCBI, GRCh38)	Gene/Locus	Gene/Locus name	Gene/Locus MIM number	Phenotype	Phenotype MIM number	Inheritance	Pheno map key	Comments	Mouse symbol (from MGI)
1:	22:15,000,001 22q11	ACF	Asymmetric crying facies (Cayler cardiofacial syndrome)	125520	Cayler cardiofacial syndrome	125520	AD	2
2:	22:15,000,001 22q11	CECR, CES	Cat eye syndrome	115470	Cat eye syndrome	115470	AD	4	partial tetrasomy of 22q11
3:	22:15,000,001 22q11-q12	LRE1, L1.2	Line-1.2 retrotransposable element	151626
4:	22:17,359,949 22q11.1-q11.21	CECR2, KIAA1740	CECR2 histone acetyl-lysine reader	607576						Cecr2
5:	22:17,400,001 22q11.2	DEL22q11.2, C22DELq11.2	Chromosome 22q11.2 deletion syndrome, distal	611867	Chromosome 22q11.2 deletion syndrome, distal	611867	AD	4
6:	22:17,400,001 22q11.2	DER22t11-22	Emanuel syndrome (supernumerary der(22)t(11;22) syndrome)	609029	Emanuel syndrome	609029	ICB	4
7:	22:17,400,001 22q11.2	DER22t8-22	Supernumerary der(22)t(8;22) syndrome	613700	Supernumerary der(22)t(8-22) syndrome	613700		4
8:	22:17,400,001 22q11.21-q12.1	DFNB40	Deafness, autosomal recessive 40	608264	Deafness, autosomal recessive 40	608264	AR	2
9:	22:17,400,001 22q11.2	DUP22q11.2	Chromosome 22q11.2 microduplication syndrome	608363	Chromosome 22q11.2 microduplication syndrome	608363	AD, IC	4	contiguous gene microduplication syndrome
10:	22:17,400,001 22q11.2	GSTT1	Glutathione S-transferase, theta-1	600436						Gstt1

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Results: 77 entries.

Location (from NCBI, GRCh38)	Gene/Locus	Gene/Locus name	Gene/Locus MIM number	Phenotype	Phenotype MIM number	Inheritance	Pheno map key	Comments	Mouse symbol (from MGI)
22:15,000,001-25,500,000 22q11	ACF	Asymmetric crying facies (Cayler cardiofacial syndrome)	125520	Cayler cardiofacial syndrome	125520	Autosomal dominant	2
22:15,000,001-25,500,000 22q11	CECR, CES	Cat eye syndrome	115470	Cat eye syndrome	115470	Autosomal dominant	4	partial tetrasomy of 22q11
22:15,000,001-37,200,000 22q11-q12	LRE1, L1.2	Line-1.2 retrotransposable element	151626
22:17,359,949-17,558,151 22q11.1-q11.21	CECR2, KIAA1740	CECR2 histone acetyl-lysine reader	607576						Cecr2
22:17,400,001-25,500,000 22q11.2	DEL22q11.2, C22DELq11.2	Chromosome 22q11.2 deletion syndrome, distal	611867	Chromosome 22q11.2 deletion syndrome, distal	611867	Autosomal dominant	4
22:17,400,001-25,500,000 22q11.2	DER22t11-22	Emanuel syndrome (supernumerary der(22)t(11;22) syndrome)	609029	Emanuel syndrome	609029	Inherited chromosomal imbalance	4
22:17,400,001-25,500,000 22q11.2	DER22t8-22	Supernumerary der(22)t(8;22) syndrome	613700	Supernumerary der(22)t(8-22) syndrome	613700		4
22:17,400,001-29,200,000 22q11.21-q12.1	DFNB40	Deafness, autosomal recessive 40	608264	Deafness, autosomal recessive 40	608264	Autosomal recessive	2
22:17,400,001-25,500,000 22q11.2	DUP22q11.2	Chromosome 22q11.2 microduplication syndrome	608363	Chromosome 22q11.2 microduplication syndrome	608363	Autosomal dominant; Isolated cases	4	contiguous gene microduplication syndrome
22:17,400,001-25,500,000 22q11.2	GSTT1	Glutathione S-transferase, theta-1	600436						Gstt1

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