1q21.1-proximal,BP2-BP3 Copy Number Variation

Description

The deletion in this region is known as TAR syndrome (Thrombocytopenia with Absent Radius). A landmark gene for this region is RBM8A (MIM#605313).

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:3320 Deletion syndrome

OMIM: 274000

Prevalence: Unknown

Definition:

A rare congenital malformation syndrome characterized by bilateral absence/hypoplasia of the radii with presence of both thumbs, and thrombocytopenia. Additional manifestations can include cow's milk allergy, anomalies of the lower limbs, heart and genitourinary system.

Phenotypic features:

Obligate (100%)	Very frequent (99–80%)	Frequent (79–30%)	Occasional (29–5%)	Very rare (<4-1%)	Excluded (0%)
-	Thrombocytopenia Abnormality of coagulation Absent radius	Broad forehead High forehead Coxa valga Hip dislocation Genu varum Patellar dislocation Clinodactyly of the 5th finger Aplasia/Hypoplasia of the ulna Aplasia/Hypoplasia of the patella Aplasia/hypoplasia of the humerus Tibial torsion Posteriorly rotated ears	Abnormality of the kidney Horseshoe kidney Abnormality of the genitourinary system Aplasia of the uterus Cleft palate Micrognathia Sensorineural hearing impairment Cervical ribs Adducted thumb Tetralogy of Fallot Abnormal cardiac septum morphology Scoliosis Fused cervical vertebrae Fibular aplasia Axial malrotation of the kidney Finger syndactyly Nevus flammeus of the forehead Phocomelia Broad thumb	-	-

Molecular pathway

View on WikiPathways

Gene Information

HGNC	Gene Name	NCBI	Ensembl	UniProt
HJV	hemojuvelin BMP co-receptor	148738	ENSG00000168509	Q6ZVN8
TXNIP	thioredoxin interacting protein	10628	ENSG00000265972	Q9H3M7
POLR3GL	RNA polymerase III subunit GL	84265	ENSG00000121851	Q9BT43
ANKRD34A	ankyrin repeat domain 34A	284615	ENSG00000272031	Q69YU3
LIX1L	limb and CNS expressed 1 like	128077	ENSG00000271601	Q8IVB5
RBM8A	RNA binding motif protein 8A	9939	ENSG00000265241	Q9Y5S9
PEX11B	peroxisomal biogenesis factor 11 beta	8799	ENSG00000131779	O96011
ITGA10	integrin subunit alpha 10	8515	ENSG00000143127	O75578
ANKRD35	ankyrin repeat domain 35	148741	ENSG00000198483	Q8N283
PIAS3	protein inhibitor of activated STAT 3	10401	ENSG00000131788	Q9Y6X2
NUDT17	nudix hydrolase 17	200035	ENSG00000186364	P0C025
POLR3C	RNA polymerase III subunit C	10623	ENSG00000186141	Q9BUI4
RNF115	ring finger protein 115	27246	ENSG00000265491	Q9Y4L5
CD160	CD160 molecule	11126	ENSG00000117281	O95971
PDZK1	PDZ domain containing 1	5174	ENSG00000174827	Q5T2W1
GPR89A

Evidence

Loading citation... [PMID: 32227665]
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