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GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1 AND Intellectual disability, autosomal dominant 22

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003327725.3

Allele description [Variation Report for GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1]

GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1

Genes:
  • MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
  • AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • AKT3-IT1:AKT3 intronic transcript 1 [Gene - HGNC]
  • AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
  • ARID4B:AT-rich interaction domain 4B [Gene - OMIM - HGNC]
  • LOC129932845:ATAC-STARR-seq lymphoblastoid active region 2797 [Gene]
  • LOC129932847:ATAC-STARR-seq lymphoblastoid active region 2798 [Gene]
  • LOC129932848:ATAC-STARR-seq lymphoblastoid active region 2799 [Gene]
  • LOC129932849:ATAC-STARR-seq lymphoblastoid active region 2800 [Gene]
  • LOC129932851:ATAC-STARR-seq lymphoblastoid active region 2803 [Gene]
  • LOC129932853:ATAC-STARR-seq lymphoblastoid active region 2804 [Gene]
  • LOC129932854:ATAC-STARR-seq lymphoblastoid active region 2805 [Gene]
  • LOC129932855:ATAC-STARR-seq lymphoblastoid active region 2806 [Gene]
  • LOC129932858:ATAC-STARR-seq lymphoblastoid active region 2807 [Gene]
  • LOC129932860:ATAC-STARR-seq lymphoblastoid active region 2808 [Gene]
  • LOC129869688:ATAC-STARR-seq lymphoblastoid active region 2809 [Gene]
  • LOC129932862:ATAC-STARR-seq lymphoblastoid active region 2812 [Gene]
  • LOC129929020:ATAC-STARR-seq lymphoblastoid active region 2813 [Gene]
  • LOC129932867:ATAC-STARR-seq lymphoblastoid active region 2814 [Gene]
  • LOC129932868:ATAC-STARR-seq lymphoblastoid active region 2815 [Gene]
  • LOC129932870:ATAC-STARR-seq lymphoblastoid active region 2816 [Gene]
  • LOC129932871:ATAC-STARR-seq lymphoblastoid active region 2817 [Gene]
  • LOC129932872:ATAC-STARR-seq lymphoblastoid active region 2818 [Gene]
  • LOC129932873:ATAC-STARR-seq lymphoblastoid active region 2819 [Gene]
  • LOC129932876:ATAC-STARR-seq lymphoblastoid active region 2820 [Gene]
  • LOC129932877:ATAC-STARR-seq lymphoblastoid active region 2821 [Gene]
  • LOC129932878:ATAC-STARR-seq lymphoblastoid active region 2822 [Gene]
  • LOC129932879:ATAC-STARR-seq lymphoblastoid active region 2823 [Gene]
  • LOC129932883:ATAC-STARR-seq lymphoblastoid active region 2825 [Gene]
  • LOC129932885:ATAC-STARR-seq lymphoblastoid active region 2826 [Gene]
  • LOC129932886:ATAC-STARR-seq lymphoblastoid active region 2827 [Gene]
  • LOC129932889:ATAC-STARR-seq lymphoblastoid active region 2828 [Gene]
  • LOC129932890:ATAC-STARR-seq lymphoblastoid active region 2829 [Gene]
  • LOC129932891:ATAC-STARR-seq lymphoblastoid active region 2830 [Gene]
  • LOC129932892:ATAC-STARR-seq lymphoblastoid active region 2831 [Gene]
  • LOC129932894:ATAC-STARR-seq lymphoblastoid active region 2832 [Gene]
  • LOC129932896:ATAC-STARR-seq lymphoblastoid active region 2833 [Gene]
  • LOC129932897:ATAC-STARR-seq lymphoblastoid active region 2836 [Gene]
  • LOC129932898:ATAC-STARR-seq lymphoblastoid active region 2837 [Gene]
  • LOC129932899:ATAC-STARR-seq lymphoblastoid active region 2838 [Gene]
  • LOC129932900:ATAC-STARR-seq lymphoblastoid active region 2839 [Gene]
  • LOC129932904:ATAC-STARR-seq lymphoblastoid active region 2840 [Gene]
  • LOC129932905:ATAC-STARR-seq lymphoblastoid active region 2841 [Gene]
  • LOC129932907:ATAC-STARR-seq lymphoblastoid active region 2844 [Gene]
  • LOC129932908:ATAC-STARR-seq lymphoblastoid active region 2845 [Gene]
  • LOC129932910:ATAC-STARR-seq lymphoblastoid active region 2846 [Gene]
  • LOC129932915:ATAC-STARR-seq lymphoblastoid active region 2848 [Gene]
  • LOC129932921:ATAC-STARR-seq lymphoblastoid active region 2849 [Gene]
  • LOC129932923:ATAC-STARR-seq lymphoblastoid active region 2850 [Gene]
  • LOC129932924:ATAC-STARR-seq lymphoblastoid active region 2851 [Gene]
  • LOC129932925:ATAC-STARR-seq lymphoblastoid active region 2852 [Gene]
  • LOC129932927:ATAC-STARR-seq lymphoblastoid active region 2853 [Gene]
  • LOC129932930:ATAC-STARR-seq lymphoblastoid active region 2855 [Gene]
  • LOC129932931:ATAC-STARR-seq lymphoblastoid active region 2856 [Gene]
  • LOC129932932:ATAC-STARR-seq lymphoblastoid active region 2857 [Gene]
  • LOC129932933:ATAC-STARR-seq lymphoblastoid active region 2858 [Gene]
  • LOC129932934:ATAC-STARR-seq lymphoblastoid active region 2859 [Gene]
  • LOC129932938:ATAC-STARR-seq lymphoblastoid active region 2860 [Gene]
  • LOC129932940:ATAC-STARR-seq lymphoblastoid active region 2861 [Gene]
  • LOC129932941:ATAC-STARR-seq lymphoblastoid active region 2862 [Gene]
  • LOC129932943:ATAC-STARR-seq lymphoblastoid active region 2863 [Gene]
  • LOC129932944:ATAC-STARR-seq lymphoblastoid active region 2864 [Gene]
  • LOC129932945:ATAC-STARR-seq lymphoblastoid active region 2865 [Gene]
  • LOC129932846:ATAC-STARR-seq lymphoblastoid silent region 1987 [Gene]
  • LOC129932850:ATAC-STARR-seq lymphoblastoid silent region 1989 [Gene]
  • LOC129932852:ATAC-STARR-seq lymphoblastoid silent region 1990 [Gene]
  • LOC129932856:ATAC-STARR-seq lymphoblastoid silent region 1991 [Gene]
  • LOC129932857:ATAC-STARR-seq lymphoblastoid silent region 1992 [Gene]
  • LOC129932859:ATAC-STARR-seq lymphoblastoid silent region 1993 [Gene]
  • LOC129932861:ATAC-STARR-seq lymphoblastoid silent region 1994 [Gene]
  • LOC129932863:ATAC-STARR-seq lymphoblastoid silent region 1995 [Gene]
  • LOC129932864:ATAC-STARR-seq lymphoblastoid silent region 1996 [Gene]
  • LOC129932865:ATAC-STARR-seq lymphoblastoid silent region 1997 [Gene]
  • LOC129932866:ATAC-STARR-seq lymphoblastoid silent region 1998 [Gene]
  • LOC129932869:ATAC-STARR-seq lymphoblastoid silent region 1999 [Gene]
  • LOC129932874:ATAC-STARR-seq lymphoblastoid silent region 2000 [Gene]
  • LOC129932875:ATAC-STARR-seq lymphoblastoid silent region 2001 [Gene]
  • LOC129932880:ATAC-STARR-seq lymphoblastoid silent region 2002 [Gene]
  • LOC129932881:ATAC-STARR-seq lymphoblastoid silent region 2003 [Gene]
  • LOC129932882:ATAC-STARR-seq lymphoblastoid silent region 2004 [Gene]
  • LOC129932884:ATAC-STARR-seq lymphoblastoid silent region 2005 [Gene]
  • LOC129932887:ATAC-STARR-seq lymphoblastoid silent region 2006 [Gene]
  • LOC129932888:ATAC-STARR-seq lymphoblastoid silent region 2007 [Gene]
  • LOC129932893:ATAC-STARR-seq lymphoblastoid silent region 2011 [Gene]
  • LOC129932895:ATAC-STARR-seq lymphoblastoid silent region 2012 [Gene]
  • LOC129932901:ATAC-STARR-seq lymphoblastoid silent region 2013 [Gene]
  • LOC129932902:ATAC-STARR-seq lymphoblastoid silent region 2014 [Gene]
  • LOC129932903:ATAC-STARR-seq lymphoblastoid silent region 2015 [Gene]
  • LOC129932906:ATAC-STARR-seq lymphoblastoid silent region 2016 [Gene]
  • LOC129932909:ATAC-STARR-seq lymphoblastoid silent region 2017 [Gene]
  • LOC129932911:ATAC-STARR-seq lymphoblastoid silent region 2018 [Gene]
  • LOC129932912:ATAC-STARR-seq lymphoblastoid silent region 2019 [Gene]
  • LOC129932913:ATAC-STARR-seq lymphoblastoid silent region 2020 [Gene]
  • LOC129932914:ATAC-STARR-seq lymphoblastoid silent region 2022 [Gene]
  • LOC129932916:ATAC-STARR-seq lymphoblastoid silent region 2023 [Gene]
  • LOC129932917:ATAC-STARR-seq lymphoblastoid silent region 2024 [Gene]
  • LOC129932918:ATAC-STARR-seq lymphoblastoid silent region 2025 [Gene]
  • LOC129932919:ATAC-STARR-seq lymphoblastoid silent region 2026 [Gene]
  • LOC129932920:ATAC-STARR-seq lymphoblastoid silent region 2027 [Gene]
  • LOC129932922:ATAC-STARR-seq lymphoblastoid silent region 2029 [Gene]
  • LOC129932926:ATAC-STARR-seq lymphoblastoid silent region 2030 [Gene]
  • LOC129932928:ATAC-STARR-seq lymphoblastoid silent region 2031 [Gene]
  • LOC129932929:ATAC-STARR-seq lymphoblastoid silent region 2034 [Gene]
  • LOC129932935:ATAC-STARR-seq lymphoblastoid silent region 2035 [Gene]
  • LOC129932936:ATAC-STARR-seq lymphoblastoid silent region 2036 [Gene]
  • LOC129932937:ATAC-STARR-seq lymphoblastoid silent region 2037 [Gene]
  • LOC129932939:ATAC-STARR-seq lymphoblastoid silent region 2038 [Gene]
  • LOC129932942:ATAC-STARR-seq lymphoblastoid silent region 2039 [Gene]
  • LOC126806062:BRD4-independent group 4 enhancer GRCh37_chr1:235832683-235833882 [Gene]
  • LOC126806064:BRD4-independent group 4 enhancer GRCh37_chr1:235884502-235885701 [Gene]
  • LOC126806067:BRD4-independent group 4 enhancer GRCh37_chr1:237753258-237754457 [Gene]
  • LOC126806068:BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610 [Gene]
  • LOC126806071:BRD4-independent group 4 enhancer GRCh37_chr1:242611784-242612983 [Gene]
  • LOC126806074:BRD4-independent group 4 enhancer GRCh37_chr1:243617070-243618269 [Gene]
  • LOC126806076:BRD4-independent group 4 enhancer GRCh37_chr1:244623002-244624201 [Gene]
  • LOC126806079:BRD4-independent group 4 enhancer GRCh37_chr1:245376557-245377756 [Gene]
  • LOC126806080:BRD4-independent group 4 enhancer GRCh37_chr1:245630817-245632016 [Gene]
  • LOC126806086:BRD4-independent group 4 enhancer GRCh37_chr1:246939407-246940606 [Gene]
  • LOC126806065:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:236073306-236074505 [Gene]
  • LOC126806069:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:240421073-240422272 [Gene]
  • LOC126806078:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:245248413-245249612 [Gene]
  • LOC126806081:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:245746285-245747484 [Gene]
  • LOC126806082:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:246032999-246034198 [Gene]
  • LOC126806085:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:246810364-246811563 [Gene]
  • CHML:CHM like Rab escort protein [Gene - OMIM - HGNC]
  • CHRM3-AS1:CHRM3 antisense RNA 1 [Gene - HGNC]
  • CHRM3-AS2:CHRM3 antisense RNA 2 [Gene - HGNC]
  • LOC128635607:CRISPR perturbation-validated SMYD3 cis-regulatory element TAD4.SE2.HS10 [Gene]
  • LOC128635606:CRISPR perturbation-validated SMYD3 cis-regulatory element TAD4.SE2.HS8 [Gene]
  • LOC128598893:CRISPRi-validated SMYD3 hub enhancer [Gene]
  • LOC128598894:CRISPRi-validated SMYD3 non-hub enhancer [Gene]
  • LOC115804253:CRISPRi-validated cis-regulatory element chr1.12743 [Gene]
  • EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
  • GNG4:G protein subunit gamma 4 [Gene - OMIM - HGNC]
  • GPR137B:G protein-coupled receptor 137B [Gene - OMIM - HGNC]
  • HEATR1:HEAT repeat containing 1 [Gene - OMIM - HGNC]
  • KIF26B-AS1:KIF26B antisense RNA 1 [Gene - HGNC]
  • LGALS8-AS1:LGALS8 antisense RNA 1 [Gene - HGNC]
  • LOC126806060:MED14-independent group 3 enhancer GRCh37_chr1:235605546-235606745 [Gene]
  • LOC126806063:MED14-independent group 3 enhancer GRCh37_chr1:235871544-235872743 [Gene]
  • LOC126806066:MED14-independent group 3 enhancer GRCh37_chr1:237451188-237452387 [Gene]
  • LOC126806070:MED14-independent group 3 enhancer GRCh37_chr1:241099640-241100839 [Gene]
  • LOC126806073:MED14-independent group 3 enhancer GRCh37_chr1:243431137-243432336 [Gene]
  • LOC126806075:MED14-independent group 3 enhancer GRCh37_chr1:244402369-244403568 [Gene]
  • LOC126806077:MED14-independent group 3 enhancer GRCh37_chr1:244898381-244899580 [Gene]
  • LOC126806084:MED14-independent group 3 enhancer GRCh37_chr1:246797385-246798584 [Gene]
  • LOC129388799:MPRA-validated peak4110 silencer [Gene]
  • LOC129388781:MPRA-validated peak773 silencer [Gene]
  • LOC129388782:MPRA-validated peak774 silencer [Gene]
  • LOC129388783:MPRA-validated peak779 silencer [Gene]
  • LOC129388784:MPRA-validated peak780 silencer [Gene]
  • LOC129388785:MPRA-validated peak781 silencer [Gene]
  • LOC129388786:MPRA-validated peak782 silencer [Gene]
  • LOC129388787:MPRA-validated peak784 silencer [Gene]
  • LOC129388788:MPRA-validated peak785 silencer [Gene]
  • LOC129388789:MPRA-validated peak786 silencer [Gene]
  • LOC129388790:MPRA-validated peak787 silencer [Gene]
  • LOC129388791:MPRA-validated peak789 silencer [Gene]
  • LOC129388792:MPRA-validated peak794 silencer [Gene]
  • LOC129388793:MPRA-validated peak795 silencer [Gene]
  • LOC129388794:MPRA-validated peak797 silencer [Gene]
  • LOC129388795:MPRA-validated peak799 silencer [Gene]
  • LOC129388796:MPRA-validated peak800 silencer [Gene]
  • LOC129388797:MPRA-validated peak801 silencer [Gene]
  • LOC129388798:MPRA-validated peak802 silencer [Gene]
  • LOC129388800:MPRA-validated peak807 silencer [Gene]
  • LOC129388801:MPRA-validated peak808 silencer [Gene]
  • LOC129388802:MPRA-validated peak809 silencer [Gene]
  • LOC129388803:MPRA-validated peak812 silencer [Gene]
  • LOC129388804:MPRA-validated peak817 silencer [Gene]
  • LOC129388805:MPRA-validated peak819 silencer [Gene]
  • LOC129388806:MPRA-validated peak823 silencer [Gene]
  • LOC129388807:MPRA-validated peak824 silencer [Gene]
  • LOC129388808:MPRA-validated peak825 silencer [Gene]
  • LOC129388809:MPRA-validated peak826 silencer [Gene]
  • LOC107548103:MS32 minisatellite repeat instability region [Gene]
  • LOC132088685:Neanderthal introgressed variant-containing enhancer experimental_6389 [Gene]
  • LOC132088686:Neanderthal introgressed variant-containing enhancer experimental_6394 [Gene]
  • LOC126806061:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:235695340-235696539 [Gene]
  • LOC126264117:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:236162526-236163725 [Gene]
  • LOC112577560:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:236259904-236261103 [Gene]
  • LOC126806072:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:242792333-242793532 [Gene]
  • LOC126806083:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:246302792-246303991 [Gene]
  • SMYD3:SET and MYND domain containing 3 [Gene - OMIM - HGNC]
  • SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
  • SMYD3-AS1:SMYD3 antisense RNA 1 [Gene - HGNC]
  • SMYD3-IT1:SMYD3 intronic transcript 1 [Gene - HGNC]
  • LOC120908923:Sharpr-MPRA regulatory region 105 [Gene]
  • LOC122152345:Sharpr-MPRA regulatory region 11090 [Gene]
  • LOC112577567:Sharpr-MPRA regulatory region 11618 [Gene]
  • LOC122152348:Sharpr-MPRA regulatory region 1169 [Gene]
  • LOC122152357:Sharpr-MPRA regulatory region 1181 [Gene]
  • LOC122152355:Sharpr-MPRA regulatory region 12100 [Gene]
  • LOC120908922:Sharpr-MPRA regulatory region 13312 [Gene]
  • LOC112577566:Sharpr-MPRA regulatory region 14056 [Gene]
  • LOC122152353:Sharpr-MPRA regulatory region 1428 [Gene]
  • LOC120947224:Sharpr-MPRA regulatory region 15017 [Gene]
  • LOC122152346:Sharpr-MPRA regulatory region 1811 [Gene]
  • LOC112577561:Sharpr-MPRA regulatory region 2344 [Gene]
  • LOC112577565:Sharpr-MPRA regulatory region 3307 [Gene]
  • LOC122152354:Sharpr-MPRA regulatory region 3339 [Gene]
  • LOC122152349:Sharpr-MPRA regulatory region 3663 [Gene]
  • LOC122152347:Sharpr-MPRA regulatory region 3741 [Gene]
  • LOC122152356:Sharpr-MPRA regulatory region 4643 [Gene]
  • LOC122152352:Sharpr-MPRA regulatory region 5448 [Gene]
  • LOC122152351:Sharpr-MPRA regulatory region 8354 [Gene]
  • LOC122152350:Sharpr-MPRA regulatory region 9224 [Gene]
  • LOC121725076:Sharpr-MPRA regulatory region 9340 [Gene]
  • LOC111828504:Sharpr-MPRA regulatory regions 872 and 4511 [Gene]
  • LOC110121251:VISTA enhancer hs2070 [Gene]
  • LOC110121264:VISTA enhancer hs2135 [Gene]
  • LOC110121265:VISTA enhancer hs2137 [Gene]
  • LOC110121266:VISTA enhancer hs2138 [Gene]
  • LOC110120698:VISTA enhancer hs545 [Gene]
  • WDR64:WD repeat domain 64 [Gene - HGNC]
  • ZNF670-ZNF695:ZNF670-ZNF695 readthrough (NMD candidate) [Gene - HGNC]
  • ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
  • ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
  • BECN2:beclin 2 [Gene - OMIM - HGNC]
  • B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
  • CEP170:centrosomal protein 170 [Gene - OMIM - HGNC]
  • CHRM3:cholinergic receptor muscarinic 3 [Gene - OMIM - HGNC]
  • C1orf202:chromosome 1 open reading frame 202 [Gene - HGNC]
  • CNST:consortin, connexin sorting protein [Gene - OMIM - HGNC]
  • LOC108004528:control region 3 heart enhancer [Gene]
  • COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
  • ERO1B:endoplasmic reticulum oxidoreductase 1 beta [Gene - OMIM - HGNC]
  • EXO1:exonuclease 1 [Gene - OMIM - HGNC]
  • FMN2:formin 2 [Gene - OMIM - HGNC]
  • FH:fumarate hydratase [Gene - OMIM - HGNC]
  • LGALS8:galectin 8 [Gene - OMIM - HGNC]
  • GGPS1:geranylgeranyl diphosphate synthase 1 [Gene - OMIM - HGNC]
  • GREM2:gremlin 2, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
  • KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
  • KMO:kynurenine 3-monooxygenase [Gene - OMIM - HGNC]
  • LINC01139:long intergenic non-protein coding RNA 1139 [Gene - HGNC]
  • LINC01341:long intergenic non-protein coding RNA 1341 [Gene - HGNC]
  • LINC01347:long intergenic non-protein coding RNA 1347 [Gene - HGNC]
  • LINC01743:long intergenic non-protein coding RNA 1743 [Gene - HGNC]
  • LINC02768:long intergenic non-protein coding RNA 2768 [Gene - HGNC]
  • LINC02774:long intergenic non-protein coding RNA 2774 [Gene - HGNC]
  • LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
  • LOC107546778:meiotic recombination hotspot MSTM1 [Gene]
  • LOC107546780:meiotic recombination hotspot MSTM2 [Gene]
  • LOC107546745:meiotic recombination hotspot NID1 [Gene]
  • LOC107546746:meiotic recombination hotspot NID2 [Gene]
  • LOC107546747:meiotic recombination hotspot NID3 [Gene]
  • MT1HL1:metallothionein 1H like 1 [Gene - HGNC]
  • MIR1537:microRNA 1537 [Gene - HGNC]
  • MIR3123:microRNA 3123 [Gene - HGNC]
  • MIR4428:microRNA 4428 [Gene - HGNC]
  • MIR4677:microRNA 4677 [Gene - HGNC]
  • MAP1LC3C:microtubule associated protein 1 light chain 3 gamma [Gene - OMIM - HGNC]
  • NID1:nidogen 1 [Gene - OMIM - HGNC]
  • OPN3:opsin 3 [Gene - OMIM - HGNC]
  • PLD5:phospholipase D family member 5 [Gene - HGNC]
  • RGS7:regulator of G protein signaling 7 [Gene - OMIM - HGNC]
  • RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
  • SCCPDH:saccharopine dehydrogenase (putative) [Gene - OMIM - HGNC]
  • SNORA100:small nucleolar RNA, H/ACA box 100 [Gene - HGNC]
  • SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
  • TFB2M:transcription factor B2, mitochondrial [Gene - OMIM - HGNC]
  • TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]
  • LOC100506929:uncharacterized LOC100506929 [Gene]
  • LOC101928068:uncharacterized LOC101928068 [Gene]
  • LOC440742:uncharacterized LOC440742 [Gene]
  • ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]
  • ZNF695:zinc finger protein 695 [Gene - OMIM - HGNC]
  • ZP4:zona pellucida glycoprotein 4 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q42.3-44
Genomic location:
Chr1: 235215476 - 247005888 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 1q42.3-44(chr1:235215476-247005888)x1
HGVS:

    Condition(s)

    Name:
    Intellectual disability, autosomal dominant 22 (MRD22)
    Synonyms:
    INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22
    Identifiers:
    MONDO: MONDO:0012869; MedGen: CN029689; OMIM: 612337

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004034253Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Aug 24, 2023)     		de novoresearch

    PubMed (2)
    [See all records that cite these PMIDs]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

    Sajan SA, Fernandez L, Nieh SE, Rider E, Bukshpun P, Wakahiro M, Christian SL, Rivière JB, Sullivan CT, Sudi J, Herriges MJ, Paciorkowski AR, Barkovich AJ, Glessner JT, Millen KJ, Hakonarson H, Dobyns WB, Sherr EH.

    PLoS Genet. 2013;9(10):e1003823. doi: 10.1371/journal.pgen.1003823. Epub 2013 Oct 3.

    PubMed [citation]
    PMID:
    24098143
    PMCID:
    PMC3789824

    Details of each submission

    From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV004034253.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (2)

    Description

    A confirmed de novo heterozygous deletion of 1q43-q44 encompassing 43 genes (https://genescout.omim.org/) was identified by exome sequencing and confirmed by qPCR in one individual with chromosome 1q43-q44 deletion syndrome ([GRCh38] chr1:235215476_247005888x1)(PMID: 24098143). These breakpoints have been estimated by qPCR and therefore may not reflect the true breakpoints. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. There is complete overlap with the FH and ZBTB18 genes which are known to be haploinsufficient and have been assessed by the ClinGen Dosage Sensitivity Working Group (https://search.clinicalgenome.org/kb/gene-dosage). In summary, the 1q43-q44 deletion meets criteria to be classified as pathogenic. The ACMG/ClinGen evidence codes and points used in this curation are as follows: 1: 0 points, 2: 1.00 points, 3: 0.90 points, 4-5: 0.15 points; Total: 2.05 points; Riggs 2020 (PMID: 31690835)

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Sep 1, 2024