8p23.1 Copy Number Variation

ORPHA: 251076 Duplication syndrome

Disease definition: 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
World-wide prevalence: 1-9 / 100 000
Very frequent (99–80%) phenotypic features: No phenotypic features available.
ORPHA: 251071 Microdeletion syndrome

Disease definition: 8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: No phenotypic features available.

HGNC	Gene Name	NCBI	Ensembl	UniProt
CLDN23	claudin 23	137075	ENSG00000253958	Q96B33
MFHAS1	multifunctional ROCO family signaling regulator 1	9258	ENSG00000147324	Q9Y4C4
ERI1	exoribonuclease 1	90459	ENSG00000104626	Q8IV48
PPP1R3B	protein phosphatase 1 regulatory subunit 3B	79660	ENSG00000173281	Q86XI6
TNKS	tankyrase	8658	ENSG00000173273	O95271
MSRA	methionine sulfoxide reductase A	4482	ENSG00000175806	Q9UJ68
PRSS55	serine protease 55	203074	ENSG00000184647	Q6UWB4
RP1L1	RP1 like 1	94137	ENSG00000183638	Q8IWN7
C8orf74	chromosome 8 open reading frame 74	203076	ENSG00000171060	Q6P047
SOX7	SRY-box transcription factor 7	83595	ENSG00000171056	Q9BT81
PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	54984	ENSG00000254093	Q96BK5
XKR6	XK related 6	286046	ENSG00000171044	Q5GH73
MTMR9	myotubularin related protein 9	66036	ENSG00000104643	Q96QG7
SLC35G5	solute carrier family 35 member G5	83650	ENSG00000177710	Q96KT7
FAM167A	family with sequence similarity 167 member A	83648	ENSG00000154319	Q96KS9
BLK	BLK proto-oncogene, Src family tyrosine kinase	640	ENSG00000136573	P51451
GATA4	GATA binding protein 4	2626	ENSG00000136574	P43694
NEIL2	nei like DNA glycosylase 2	252969	ENSG00000154328	Q969S2
FDFT1	farnesyl-diphosphate farnesyltransferase 1	2222	ENSG00000079459	P37268
CTSB	cathepsin B	1508	ENSG00000164733	P07858
DEFB136	defensin beta 136	613210	ENSG00000205884	Q30KP8
DEFB135	defensin beta 135	613209	ENSG00000205883	Q30KP9
DEFB134	defensin beta 134	613211	ENSG00000205882	Q4QY38