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Daryl Scott Lab (Baylor College of Medicine)

General information

Daryl Scott Lab
Baylor College of Medicine
R813, One Baylor Plaza, BCM225
Houston
Texas
United States - 77030
https://www.bcm.edu/people/view/daryl-scott-m-d-ph-d/b174cc0d-ffed-11e2-be68-080027880ca6
Organization ID: 505993

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 343

Gene

GeneSubmissionsLast Updated
ABCC22Aug 25, 2022
ABL11Nov 12, 2020
ACO21Apr 6, 2020
ACTB1May 16, 2022
ADAMTSL22May 16, 2022
ADAT31May 16, 2022
ADNP2May 16, 2022
ALAS21Aug 25, 2022
ALDH3A21May 16, 2022
ALG123Nov 12, 2020
AMER11May 16, 2022
ANKRD111Nov 12, 2020
AOPEP1May 16, 2022
APOB1May 16, 2022
ARID1A4Aug 25, 2022
ASIC4-AS11May 16, 2022
ASTN21Apr 12, 2023
ATP7A2May 16, 2022
B3GALT62Nov 12, 2020
BAZ2B13Jun 13, 2023
BBS12May 16, 2022
BRCA23May 16, 2022
CACNA1C1May 16, 2022
CAD1Aug 25, 2022
CASR1Aug 25, 2022
CC2D1A2Aug 25, 2022
CCDC1031Apr 11, 2023
CCNH1Nov 12, 2020
CCNQ1May 16, 2022
CD961Apr 11, 2023
CDH11May 16, 2022
CDK101May 16, 2022
CDK131Jan 27, 2022
CHAMP11Jan 27, 2022
CHD74Aug 25, 2022
CHD81Jan 27, 2022
CHRNG1Jan 27, 2022
CLTRN1Oct 2, 2019
COL4A11Apr 11, 2023
CREBBP2May 16, 2022
CSMD11Apr 12, 2023
CSNK2A31May 16, 2022
DDX3X2May 16, 2022
DHCR71May 16, 2022
DISP11Aug 25, 2022
DKC11Nov 12, 2020
DNAH111Apr 11, 2023
DTNA1Apr 11, 2023
EDAR1Aug 25, 2022
EFTUD22Apr 11, 2023
EHMT11May 16, 2022
EP3003May 16, 2022
EXT11Aug 25, 2022
FANCC1May 16, 2022
FANCI1Nov 12, 2020
FANCL1Aug 25, 2022
FANCM1Apr 11, 2023
FGFR21May 16, 2022
FGFR33Aug 25, 2022
FGFRL12Jan 5, 2021
FOXC21Nov 12, 2020
FOXF11May 16, 2022
FOXP11Nov 12, 2020
FRAS13Nov 9, 2016
FREM24Nov 9, 2016
GALNT181May 16, 2022
GAN1Apr 11, 2023
GATA41Jan 27, 2022
GHR1Jan 27, 2022
GJB21May 16, 2022
GLB11Apr 11, 2023
GLI31Nov 9, 2016
GNAI11Jan 27, 2022
GPC31Jan 27, 2022
GPC51Aug 14, 2023
GRIP11May 16, 2022
HCCS1Nov 12, 2020
HEXA1Aug 25, 2022
HOXD131Jan 27, 2022
HSPG22May 16, 2022
IDS1Nov 12, 2020
JAG11May 16, 2022
KAT6B1May 16, 2022
KDM6A1May 16, 2022
KIF4A1May 16, 2022
KIF72May 16, 2022
KLHL401May 16, 2022
KMT2D10May 16, 2022
KNL12May 16, 2022
LARS12Aug 25, 2022
LIX1L-AS11Apr 11, 2023
LMX1B1Nov 12, 2020
LOC1060501021Nov 12, 2020
LOC1268058511Apr 11, 2023
LOC1268061711Aug 25, 2022
LOC1268072121Apr 11, 2023
LOC1268600751May 16, 2022
LOC1268604031May 16, 2022
LOC1268615201May 16, 2022
LOC1268622161May 16, 2022
LPP1Jan 27, 2022
LRP27May 16, 2022
MACROD21Aug 14, 2023
MAP3K201Aug 25, 2022
MAP3K20-AS11Aug 25, 2022
MCPH11Nov 12, 2020
MCTP21Aug 14, 2023
MED121Nov 12, 2020
MED13L1Aug 25, 2022
MICU11Aug 14, 2023
MID11May 16, 2022
MKKS1Apr 11, 2023
MNX11May 16, 2022
MSTO12May 16, 2022
MYBPC31May 16, 2022
MYCN1May 16, 2022
MYH71Apr 11, 2023
MYRF4Nov 12, 2020
NAA151Apr 11, 2023
NDUFAF41Aug 25, 2022
NEB2May 16, 2022
NEDD4L1May 16, 2022
NIPBL2May 16, 2022
NKX2-11Apr 11, 2023
NONO3Mar 17, 2020
NPHP41May 16, 2022
PACS21May 16, 2022
PAX59Aug 23, 2021
PCLO2May 16, 2022
PDHA11Nov 12, 2020
PHOX2B1May 16, 2022
PIEZO21May 16, 2022
PIGL2Jan 27, 2022
PIK3CA1May 16, 2022
PMS21Apr 11, 2023
POGZ1Nov 12, 2020
POLR3H1Apr 6, 2020
POR2May 16, 2022
PQBP11May 16, 2022
PRKN1Apr 12, 2023
PTEN1Apr 11, 2023
PTPN112Aug 25, 2022
QARS12May 16, 2022
RAD511May 16, 2022
RANBP21Aug 25, 2022
RARB1Jan 27, 2022
RASA11Nov 12, 2020
RBM8A1Apr 11, 2023
RERE10Sep 12, 2017
RET1May 16, 2022
RIF11May 16, 2022
ROBO41Nov 9, 2016
RYR12May 16, 2022
SACS2Jan 27, 2022
SALL12May 16, 2022
SALL42Apr 11, 2023
SCAMP41May 16, 2022
SCLT14Aug 25, 2022
SDHAF11May 16, 2022
SETD21May 16, 2022
SETD51Jan 27, 2022
SFTA31Apr 11, 2023
SLC12A31May 16, 2022
SLC20A21Aug 25, 2022
SLC2A101Nov 12, 2020
SMARCA43May 16, 2022
SMARCC21Nov 12, 2020
SMC1A1Apr 11, 2023
SOS11Nov 12, 2020
SPECC1L1May 16, 2022
SPECC1L-ADORA2A1May 16, 2022
SPEG2May 16, 2022
SPTB1Aug 25, 2022
STAG22Jan 27, 2022
STIL1May 16, 2022
TANC21May 16, 2022
TBL1XR11May 16, 2022
TBX31Jan 27, 2022
TBX3-AS11Jan 27, 2022
TBX51Aug 25, 2022
TCF121Nov 12, 2020
TCF42Aug 25, 2022
TENM11Jan 27, 2022
TG1May 16, 2022
TLL11Apr 11, 2023
TPO2May 16, 2022
TRAF71Nov 12, 2020
TTN1May 16, 2022
TTN-AS11May 16, 2022
UBA21Jan 27, 2022
UBE3B2May 16, 2022
USP9X2Jan 27, 2022
VRK21Aug 25, 2022
WT11Jan 27, 2022
ZBTB201May 16, 2022
ZDHHC242May 16, 2022
ZEB21May 16, 2022
ZFPM22Nov 12, 2020
ZFPM2-AS12Nov 12, 2020
ZNF7111May 16, 2022

Condition

NameSubmissionsLast Updated
22q11.2 central deletion syndrome1Aug 14, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2May 16, 2022
ALG12-congenital disorder of glycosylation3Nov 12, 2020
APOB-related disorder1May 16, 2022
ATP7A-realted disorder1May 16, 2022
Acrocallosal syndrome2May 16, 2022
Al Kaissi syndrome1May 16, 2022
Alagille syndrome due to a JAG1 point mutation1May 16, 2022
Alveolar capillary dysplasia with pulmonary venous misalignment1May 16, 2022
Aminoaciduria2Oct 2, 2019
Anomalous pulmonary venous return23Apr 12, 2023
Arterial tortuosity syndrome1Nov 12, 2020
Atrial septal defect 21Jan 27, 2022
Atrial septal defect 61Apr 11, 2023
Autism, susceptibility to, 181Jan 27, 2022
Autosomal recessive multiple pterygium syndrome1Jan 27, 2022
Autosomal recessive nonsyndromic hearing loss 1A1May 16, 2022
BAZ2B-related disorder8Jun 13, 2023
Baraitser-Winter syndrome 11May 16, 2022
Bardet-Biedl syndrome 12May 16, 2022
Blepharocheilodontic syndrome 11May 16, 2022
Brachydactyly-syndactyly syndrome1Jan 27, 2022
Brain small vessel disease 1 with or without ocular anomalies1Apr 11, 2023
C syndrome1Apr 11, 2023
CACNA1C-Related Disorder1May 16, 2022
CHARGE association4Aug 25, 2022
CHIME syndrome2Jan 27, 2022
Capillary malformation-arteriovenous malformation 11Nov 12, 2020
Cardiac, facial, and digital anomalies with developmental delay1Nov 12, 2020
Cardiac-urogenital syndrome4Nov 12, 2020
Charlevoix-Saguenay spastic ataxia2Jan 27, 2022
Chromosome 15q11.2 deletion syndrome3Aug 14, 2023
Chromosome 19p13.13 deletion syndrome1Aug 14, 2023
Coffin-Siris syndrome 81Nov 12, 2020
Congenital central hypoventilation1May 16, 2022
Congenital diaphragmatic hernia11Jan 5, 2021
Congenital heart defects and skeletal malformations syndrome1Nov 12, 2020
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1Jan 27, 2022
Congenital muscular hypertrophy-cerebral syndrome1Apr 11, 2023
Cornelia de Lange syndrome 12May 16, 2022
Cowden syndrome 11Apr 11, 2023
Currarino triad1May 16, 2022
DNAH11-related disorder1Apr 11, 2023
Deficiency of iodide peroxidase2May 16, 2022
Developmental and epileptic encephalopathy, 501Aug 25, 2022
Developmental and epileptic encephalopathy, 661May 16, 2022
Diaphragmatic eventration1Jan 27, 2022
Diaphragmatic hernia23Jan 27, 2022
Diaphragmatic hernia 32Nov 12, 2020
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome2May 16, 2022
Dilated cardiomyopathy 1S1Apr 11, 2023
Distichiasis-lymphedema syndrome1Nov 12, 2020
Donnai-Barrow syndrome7May 16, 2022
Drash syndrome1Jan 27, 2022
Duane-radial ray syndrome1May 16, 2022
Dubin-Johnson syndrome2Aug 25, 2022
Dyskeratosis congenita, X-linked1Nov 12, 2020
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant1Aug 25, 2022
Ehlers-Danlos syndrome, spondylodysplastic type, 22Nov 12, 2020
Esophageal atresia1Aug 25, 2022
Exostoses, multiple, type 11Aug 25, 2022
FANCM-related disorder1Apr 11, 2023
FGFR2-realated disorder1May 16, 2022
FGFR3-related disoder1May 16, 2022
FGFR3-related disorder1May 16, 2022
Familial hypokalemia-hypomagnesemia1May 16, 2022
Fanconi anemia complementation group C1May 16, 2022
Fanconi anemia complementation group D13May 16, 2022
Fanconi anemia complementation group I1Nov 12, 2020
Fanconi anemia complementation group L1Aug 25, 2022
Fanconi anemia complementation group R1May 16, 2022
Feingold syndrome type 11May 16, 2022
Fraser syndrome 31May 16, 2022
GLB1-related disorder1Apr 11, 2023
GNAI1-related disorder1Jan 27, 2022
Geleophysic dysplasia 12May 16, 2022
Giant axonal neuropathy 11Apr 11, 2023
Gordon syndrome1May 16, 2022
HSPG2-realted disorder2May 16, 2022
Hereditary spherocytosis type 21Aug 25, 2022
Hirschsprung disease, susceptibility to, 11May 16, 2022
Holt-Oram syndrome1Aug 25, 2022
Hypertrophic cardiomyopathy 41May 16, 2022
Idiopathic basal ganglia calcification 11Aug 25, 2022
Infantile liver failure syndrome 12Aug 25, 2022
Intellectual developmental disorder with autistic features and language delay, with or without seizures1May 16, 2022
Intellectual disability, X-linked 1001May 16, 2022
Intellectual disability, X-linked 1022May 16, 2022
Intellectual disability, X-linked 971May 16, 2022
Intellectual disability, X-linked 99, syndromic, female-restricted2Jan 27, 2022
Intellectual disability, autosomal dominant 144Aug 25, 2022
Intellectual disability, autosomal dominant 163May 16, 2022
Intellectual disability, autosomal dominant 401Jan 27, 2022
Intellectual disability, autosomal dominant 501Apr 11, 2023
Intellectual disability, autosomal recessive 32Aug 25, 2022
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency1Jan 27, 2022
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome1Nov 12, 2020
Intellectual disability-severe speech delay-mild dysmorphism syndrome1Nov 12, 2020
Intellectual disability-strabismus syndrome1May 16, 2022
Iodotyrosyl coupling defect1May 16, 2022
KAT6B-realted disoder1May 16, 2022
KBG syndrome1Nov 12, 2020
Kabuki syndrome 110May 16, 2022
Kabuki syndrome 21May 16, 2022
Kleefstra syndrome 11May 16, 2022
LEOPARD syndrome 11Aug 25, 2022
Left ventricular noncompaction 11Apr 11, 2023
Lethal multiple pterygium syndrome1Jan 27, 2022
Linear skin defects with multiple congenital anomalies 11Nov 12, 2020
Luscan-Lumish syndrome1May 16, 2022
Lynch syndrome 41Apr 11, 2023
MED12-related disorder1Nov 12, 2020
Mandibulofacial dysostosis-microcephaly syndrome2Apr 11, 2023
McKusick-Kaufman syndrome1Apr 11, 2023
Microcephaly 1, primary, autosomal recessive1Nov 12, 2020
Microcephaly 4, primary, autosomal recessive2May 16, 2022
Microcephaly 7, primary, autosomal recessive1May 16, 2022
Microphthalmia, syndromic 121Jan 27, 2022
Mitochondrial complex I deficiency, nuclear type 11Aug 25, 2022
Mitochondrial complex II deficiency, nuclear type 11May 16, 2022
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome2May 16, 2022
Mowat-Wilson syndrome1May 16, 2022
Mucopolysaccharidosis, MPS-II1Nov 12, 2020
Mullegama-Klein-Martinez syndrome2Jan 27, 2022
Myopathy, centronuclear, 52May 16, 2022
NKX2-1-related disorder1Apr 11, 2023
Nail-patella syndrome1Nov 12, 2020
Nemaline myopathy 22May 16, 2022
Nemaline myopathy 81May 16, 2022
Neonatal severe primary hyperparathyroidism1Aug 25, 2022
Neurodevelopmental disorder15Aug 23, 2021
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart10Sep 12, 2017
Noonan syndrome 11May 16, 2022
Noonan syndrome 41Nov 12, 2020
Oculocerebrofacial syndrome, Kaufman type2May 16, 2022
Okur-Chung neurodevelopmental syndrome1May 16, 2022
Optic atrophy 91Apr 6, 2020
Osteopathia striata with cranial sclerosis1May 16, 2022
PIK3CA-related disorder1May 16, 2022
POR-related disorder2May 16, 2022
Periventricular nodular heterotopia 71May 16, 2022
Pitt-Hopkins syndrome2Aug 25, 2022
Pontocerebellar hypoplasia type 32May 16, 2022
Primary ciliary dyskinesia 171Apr 11, 2023
Primrose syndrome1May 16, 2022
Pyruvate dehydrogenase E1-alpha deficiency1Nov 12, 2020
RYR1-Related Disorder2May 16, 2022
Radial aplasia-thrombocytopenia syndrome1Apr 11, 2023
Renpenning syndrome1May 16, 2022
Rubinstein-Taybi syndrome due to CREBBP mutations2May 16, 2022
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency3May 16, 2022
SALL4-related disorder1Apr 11, 2023
SCLT1-related disorder2May 16, 2022
See cases16Aug 14, 2023
Senior-Loken syndrome 41May 16, 2022
Simpson-Golabi-Behmel syndrome type 11Jan 27, 2022
Sjögren-Larsson syndrome1May 16, 2022
Smith-Lemli-Opitz syndrome1May 16, 2022
Split-foot malformation-mesoaxial polydactyly syndrome1Aug 25, 2022
Syndactyly-telecanthus-anogenital and renal malformations syndrome1May 16, 2022
Syndromic X-linked intellectual disability 343Mar 17, 2020
TBL1XR1-Related Disorder1May 16, 2022
TCF12-related craniosynostosis1Nov 12, 2020
TTN-Related disorder1May 16, 2022
Tay-Sachs disease1Aug 25, 2022
Teebi hypertelorism syndrome 11May 16, 2022
Thanatophoric dysplasia type 11Aug 25, 2022
Townes-Brocks syndrome 12May 16, 2022
Tracheoesophageal fistula2Aug 25, 2022
Transposition of the great arteries, dextro-looped1Aug 25, 2022
UBA2-related disorder2Jan 27, 2022
Ulnar-mammary syndrome1Jan 27, 2022
Ventricular septal defect 11Jan 27, 2022
Williams syndrome1Apr 12, 2023
X-linked Opitz G/BBB syndrome1May 16, 2022
X-linked sideroblastic anemia 11Aug 25, 2022