×
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:
84148
Gene Symbol:
KAT8
KAT8
Autistic Disorder
0.300
Biomarker
GENOMICS_ENGLAND
Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism , dysmorphisms, and other anomalies.
31794431
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:
477
Gene Symbol:
ATP1A2
ATP1A2
Microcephaly
0.300
Biomarker
GENOMICS_ENGLAND
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
30690204
2020
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
×
Entrez Id:
51399
Gene Symbol:
TRAPPC4
TRAPPC4
Scoliosis, unspecified
0.300
Biomarker
GENOMICS_ENGLAND
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
31794024
2020
×
Entrez Id:
51399
Gene Symbol:
TRAPPC4
TRAPPC4
Seizures
0.300
Biomarker
GENOMICS_ENGLAND
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
31794024
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
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:
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:
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:
51399
Gene Symbol:
TRAPPC4
TRAPPC4
Feeding difficulties
0.300
Biomarker
GENOMICS_ENGLAND
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
31794024
2020
×
Entrez Id:
84148
Gene Symbol:
KAT8
KAT8
Feeding difficulties
0.300
Biomarker
GENOMICS_ENGLAND
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
31794431
2020
×
Entrez Id:
51399
Gene Symbol:
TRAPPC4
TRAPPC4
Visual Cortex Disorder
0.300
Biomarker
GENOMICS_ENGLAND
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
31794024
2020
×
Entrez Id:
84148
Gene Symbol:
KAT8
KAT8
Cardiovascular Abnormalities
0.300
Biomarker
GENOMICS_ENGLAND
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
31794431
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:
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
×
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:
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
×
Entrez Id:
84148
Gene Symbol:
KAT8
KAT8
Global developmental delay
0.300
Biomarker
GENOMICS_ENGLAND
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
31794431
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