RALGAPA1
Muscle hypotonia
0.300
Biomarker
GENOMICS_ENGLAND
Here, we report the identification of bi-allelic variants in RALGAPA1 (encoding Ral GTPase activating protein catalytic alpha subunit 1 ) in four unrelated individuals with profound neurodevelopmental disability, muscular hypotonia , feeding abnormalities, recurrent fever episodes, and infantile spasms .
32004447
2020
RALGAPA1
Intellectual Disability
0.300
Biomarker
GENOMICS_ENGLAND
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
32004447
2020
×
Entrez Id:
26007
Gene Symbol:
TKFC
TKFC
Cataract
0.300
Biomarker
GENOMICS_ENGLAND
We postulate that deficiency of TKFC causes disruption of endogenous fructose metabolism leading to generation of by-products that can cause cataract .
32004446
2020
×
Entrez Id:
26007
Gene Symbol:
TKFC
TKFC
Liver Dysfunction
0.300
Biomarker
GENOMICS_ENGLAND
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.
32004446
2020
×
Entrez Id:
26007
Gene Symbol:
TKFC
TKFC
Developmental delay (disorder)
0.300
Biomarker
GENOMICS_ENGLAND
Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay , associated with cerebellar hypoplasia in one case.
32004446
2020
×
Entrez Id:
26007
Gene Symbol:
TKFC
TKFC
Global developmental delay
0.300
Biomarker
GENOMICS_ENGLAND
Shared phenotypes between affected individuals with TKFC deficiency include cataracts and developmental delay , associated with cerebellar hypoplasia in one case.
32004446
2020
×
Entrez Id:
55191
Gene Symbol:
NADSYN1
NADSYN1
Multiple congenital anomalies
0.300
Biomarker
GENOMICS_ENGLAND
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
31883644
2020
×
Entrez Id:
55191
Gene Symbol:
NADSYN1
NADSYN1
Multiple congenital anomalies
0.300
Biomarker
GENOMICS_ENGLAND
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
31883644
2020
×
Entrez Id:
55191
Gene Symbol:
NADSYN1
NADSYN1
Absent kidney
0.300
Biomarker
GENOMICS_ENGLAND
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
31883644
2020
×
Entrez Id:
55191
Gene Symbol:
NADSYN1
NADSYN1
Absent kidney
0.300
Biomarker
GENOMICS_ENGLAND
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
31883644
2020
PPP1R12A
Intellectual Disability
0.310
Biomarker
GENOMICS_ENGLAND
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
31883643
2020
PPP1R12A
Disorders of Sex Development
0.300
Biomarker
GENOMICS_ENGLAND
Based on these clinical and molecular findings, we propose the association of PPP1R12A pathogenic variants with a congenital malformations syndrome affecting the embryogenesis of the brain and genitourinary systems and including disorders of sex development .
31883643
2020
PPP1R12A
Holoprosencephaly
0.300
Biomarker
GENOMICS_ENGLAND
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
31883643
2020
×
Entrez Id:
3172
Gene Symbol:
HNF4A
HNF4A
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG
0.700
Biomarker
GENOMICS_ENGLAND
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.
31875549
2019
×
Entrez Id:
55871
Gene Symbol:
CBWD1
CBWD1
×
CUI:
C1968949
Disease:
Cakut
Cakut
0.300
Biomarker
GENOMICS_ENGLAND
Deletion in the Cobalamin Synthetase W Domain-Containing Protein 1 Gene Is associated with Congenital Anomalies of the Kidney and Urinary Tract.
31862704
2020
×
Entrez Id:
9698
Gene Symbol:
PUM1
PUM1
Intellectual Disability
0.400
Biomarker
GENOMICS_ENGLAND
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
31859446
2020
×
Entrez Id:
9698
Gene Symbol:
PUM1
PUM1
Ataxia
0.310
Biomarker
GENOMICS_ENGLAND
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
31859446
2020
×
Entrez Id:
9698
Gene Symbol:
PUM1
PUM1
Seizures
0.310
Biomarker
GENOMICS_ENGLAND
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
31859446
2020
×
Entrez Id:
9698
Gene Symbol:
PUM1
PUM1
Cryptorchidism
0.300
Biomarker
GENOMICS_ENGLAND
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
31859446
2020
×
Entrez Id:
9698
Gene Symbol:
PUM1
PUM1
Global developmental delay
0.300
Biomarker
GENOMICS_ENGLAND
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
31859446
2020
×
Entrez Id:
9698
Gene Symbol:
PUM1
PUM1
Abnormality of the face
0.300
Biomarker
GENOMICS_ENGLAND
PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.
31859446
2020
×
Entrez Id:
63932
Gene Symbol:
CXorf56
CXorf56
MENTAL RETARDATION, X-LINKED 107
0.300
Biomarker
GENOMICS_ENGLAND
Novel clinical and genetic insight into CXorf56-associated intellectual disability.
31822863
2020
×
Entrez Id:
7360
Gene Symbol:
UGP2
UGP2
Seizures
0.300
Biomarker
GENOMICS_ENGLAND
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
31820119
2020
×
Entrez Id:
7360
Gene Symbol:
UGP2
UGP2
Feeding difficulties
0.300
Biomarker
GENOMICS_ENGLAND
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
31820119
2020
×
Entrez Id:
7360
Gene Symbol:
UGP2
UGP2
Global developmental delay
0.300
Biomarker
GENOMICS_ENGLAND
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
31820119
2020