Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Chromodomain-helicase-DNA-binding protein 1-like

The CHD1L gene encodes a DNA helicase involved in DNA repair. Mutations seem to be associated with urogenital malformations.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
SALL4
Aplasia of lacrimal and salivary glands
FGF10
Autosomal dominant Robinow syndrome 1
WNT5A
Autosomal recessive Robinow syndrome
ROR2
BMP7
BNAR syndrome
FREM1
Brain malformations with urinary tract defects
NFIA
Branchio-oculo-facial syndrome
TFAP2A
Branchiootic syndrome
Branchiootic syndrome 1
EYA1
Branchiootic syndrome 3
SIX1
Branchiootorenal dysplasia
Branchiootorenal dysplasia 1
EYA1
Branchiootorenal dysplasia 2
SIX5
SIX2
Townes-Brocks branchiootorenal-like syndrome
SALL1
CHARGE syndrome
CHD7
SEMA3E
TBX18
CHD1L
Congenital anomalies of kidney and urinary tract 1
DSTYK
Congenital anomalies of kidney and urinary tract 2
TBX18
Congenital hypogonadotropic hypogonadism with anosmia 1
ANOS1
Congenital hypogonadotropic hypogonadism without anosmia 5
CHD7
Denys-Drash syndrome
WT1
Fraser syndrome
FRAS1
FREM2
GRIP1
Frasier syndrome
WT1
Goldberg-Shprintzen syndrome
KIF1BP
IVIC syndrome
SALL4
Ivemark syndrome
Renal-hepatic-pancreatic dysplasia 1
NPHP3
Renal-hepatic-pancreatic dysplasia 2
NEK8
Kabuki syndrome
KDM6A
Kabuki syndrome 1
KMT2D
Kabuki syndrome 2
KDM6A
Lacrimoauriculodentodigital syndrome
FGF10
Mowat-Wilson syndrome
ZEB2
Papillorenal syndrome
PAX2
Renal cysts and diabetes (RCAD)
HNF1B
Renal dysplasia with hypopituitarism and diabetes
HNF1A
Renal hypodysplasia/aplasia
GREB1L
Renal hypodysplasia/aplasia 1
DSTYK
ITGA8
PAX2
RET
UPK3A
Renal hypodysplasia/aplasia 2
FGF20
Renal tubular dysgenesis
ACE
AGT
AGTR1
REN
SERKAL syndrome
WNT4
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 1
GPC3
Simpson-Golabi-Behmel syndrome 2
OFD1
Smith-Lemli-Opitz syndrome
DHCR7
Somatic nephroblastoma
GPC3
WT1
Susceptibility to cystic renal dysplasia
BICC1
Syndromic microphthalmia 6
BMP4
Urofacial syndrome
HPSE2
Vesicoureteral reflux
Familial vesicoureteral reflux 2
ROBO2
Familial vesicoureteral reflux 3
SOX17
Familial vesicoureteral reflux 8
TNXB
WAGR syndrome
PAX6
WT1

References:

1.

Ma NF et al. (2008) Isolation and characterization of a novel oncogene, amplified in liver cancer 1, within a commonly amplified region at 1q21 in hepatocellular carcinoma.

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2.

Ahel D et al. (2009) Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1.

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3.

Gottschalk AJ et al. (2009) Poly(ADP-ribosyl)ation directs recruitment and activation of an ATP-dependent chromatin remodeler.

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4.

Chen M et al. (2009) Transgenic CHD1L expression in mouse induces spontaneous tumors.

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5.

Chen L et al. (2010) CHD1L promotes hepatocellular carcinoma progression and metastasis in mice and is associated with these processes in human patients.

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6.

NCBI article

NCBI 9557 [^]
7.

OMIM.ORG article

Omim 613039 [^]
8.

Wikipedia article

Wikipedia EN (CHD1L) [^]
Update: April 29, 2019