### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHF6) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PHF6" "PHD finger protein 6" "X" "q26" "unknown" "NG_008886.1" "UD_132119166024" "" "http://www.LOVD.nl/PHF6" "" "1" "18145" "84295" "300414" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PHF6_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2016-11-11 09:16:34" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024195" "PHF6" "transcript variant 1" "003" "NM_001015877.1" "" "NP_001015877.1" "" "" "" "-202" "4230" "1098" "133507342" "133562822" "00006" "2016-11-11 09:15:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00776" "BFLS" "Borjeson-Forssman-Lehmann syndrome (BFLS)" "XLR" "301900" "" "deep-set eyes, large ears with large lobes; global developmental delay (HP:0001263); intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, rather hypoplastic external genitalia with pubertal delay" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-03 20:06:20" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PHF6" "00139" "PHF6" "00776" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00016861" "" "" "" "1" "" "00714" "{PMID:Tzschach 2015:25649377}" "2-generation family, 1 affected, heterozygous carrier mother/sister" "M" "" "" "" "0" "" "" "" "Pat21" "00050635" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00087089" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2013:23906836}" "" "F" "" "" "" "0" "" "" "" "K2570" "00087090" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2013:23906836}" "" "F" "" "" "" "0" "" "" "" "K2436" "00183115" "" "" "" "5" "" "00006" "{PMID:Hu 2016:25644381}" "family, 5 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamD83" "00294939" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315016" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1321" "00374805" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1590" "00405783" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "194266" "00448149" "" "" "" "3" "" "00006" "{PMID:Shepherdson 2024:38325380}, {DOI:Shepherdson 2024:10.1016/j.ajhg.2024.01.007}" "2-generation family, 3 affected sibs" "M" "" "Netherlands" "" "0" "" "" "Europe-W" "Pat6A" "00467785" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "no" "Saudi Arabia" "" "0" "" "" "" "Fam035PatBAB6840" "00469200" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016861" "00187" "00050635" "00198" "00087089" "00198" "00087090" "00198" "00183115" "00187" "00294939" "00198" "00315016" "00198" "00374805" "00198" "00405783" "00776" "00448149" "05611" "00467785" "05611" "00469200" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00776, 01157, 05611 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015392" "00187" "00016861" "00714" "Unknown" "15y" "moderate intellectual disability short stature (152 cm, <3rd centile), macrocephaly (59 cm), cryptorchidism, hypogenitalism, dental crowding, tapering fingers, facial dysmorphism, large ears, fleshy earlobes, synophrys, narrow palpebral fissures; sister learning problems, similar facial features" "" "" "" "" "" "" "" "" "" "" "Börjeson-Forssman-Lehmann syndrome" "" "0000037247" "00198" "00050635" "00006" "Isolated (sporadic)" "" "global developmental delay, joint hypermobility, sparse scalp hair, sparse lateral eyebrow, highly arched eyebrow, strabismus, edema, spontaneous neonatal pneumothorax, umbilical hernia, hypopigmentation of the skin, 3-4 toe syndactyly, sandal gap, ventriculomegaly, generalized neonatal hypotonia, nocturnal hypoventilation, hip dysplasia, unilateral ptosis, upslanted palpebral fissure, inverted nipples" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000066688" "00198" "00087089" "00006" "Isolated (sporadic)" "" "see paper; ..., birth 38w; intellectual disability; 18m-walk; 13m-first words; no hypotonia; no seizures; ?; no hearing loss; no frequent infections; feeding problems; anxiety; coarse face; low frontal hairline; synophrys; thick eyebrows; no long eyelashes; no ptosis; no narrow palpebral fissures; flat nasal bridge; broad nose; no upturned nasal tip; no thick, anteverted alae nasi; large mouth; no thin upper vermillion; thick lower vermillion; no macroglossia; short philtrum; no long philtrum; no abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; prominent interphalangeal joints; no prominent distal phalanges; sandal gap; normal bone age; scoliosis; no congenital heart disease; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; nail a/hypoplasia; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; streaky hyperpigmentation" "" "" "08y" "" "" "" "" "" "" "" "Coffin-Siris syndrome" "" "0000066689" "00198" "00087090" "00006" "Isolated (sporadic)" "" "see paper; ..., birth 39w; intellectual disability; >12m-sit, 30m-walk; >36m-first words; hypotonia; no seizures; no vision problem; no hearing loss; frequent infections, cystitis; no feeding problems; behavioural anomalies; coarse face; no low frontal hairline; synophrys; thick arched eyebrows; no long eyelashes; no ptosis; no narrow palpebral fissures; no flat nasal bridge; no broad nose; upturned nasal tip; thick, anteverted alae nasi; large mouth; thin upper vermillion; thick lower vermillion; no macroglossia; no short philtrum; long philtrum; abnormal ears; no cleft palate; a/hypoplasia distal phalanges V; short metacarpals/metatarsals; prominent interphalangeal joints; no prominent distal phalanges; no sandal gap; no spinal anomalies; advanced bone age; no scoliosis; clitoris hypoplasia; congenital heart disease, PDA; body hirsutism; no increased skin wrinkling; no fetal finger pads; sparse scalp hair; bilateralnail a/hypoplasia; delayed dentition; no small cerebellum; no Dandy-Walker anomaly; normal corpus callosum; streaky hyperpigmentation" "" "" "00y33m" "" "" "" "" "" "" "" "Coffin-Siris syndrome" "" "0000143869" "00187" "00183115" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000238768" "00198" "00315016" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Borjeson-Forssman-Lehmann syndrome" "chromatinopathy" "" "0000270015" "00198" "00374805" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000298280" "00776" "00405783" "01164" "Familial, X-linked recessive" "01y" "Global developmental delay, Motor delay, Hypotonia, Infantile muscular hypotonia, Strabismus, Hypoglycemia, Neonatal hypoglycemia, Esodeviation, Patent foramen ovale, Constipation, Atrial septal defect, Plagiocephaly, Abnormality of calvarial morphology, Abnormal corpus callosum morphology, Agenesis of corpus callosum, Aplasia/Hypoplasia of the corpus callosum, Sleep disturbance, Sleep apnea, Abnormal testis morphology, Retractile testis, Lacrimal duct stenosis, Nasolacrimal duct obstruction" "" "" "" "" "" "" "" "" "" "" "" "" "0000337363" "05611" "00448149" "00006" "Familial, X-linked" "34y9m" "see paper; ..., birth 39w Ceasarean section( elective, pre-eclampsia) LGA; conductive hearing loss (childhood); mild unilateral SNHL (adulthood); chronic serous otitis media (multiple pe tubes); high myopia; b/l retinal detachment; b/l complete absence sphincter pupillate; developmental motor delay; 2y-walk; fine motor difficulties  ; developmental delay language; 2y-first words ; 3y-speak in sentences; no autism; ADHD; anger/ frustration, obsessive traits in childhood,  challenging behavior (when older); sleep frequent waking, night terrors ; FSIQ 60 ; special education, secondary school ; Enlarged kidneys but then normal. Thickened bladder wall ; No; Hypogonadotropic hypogonadism; secondary osteopenia; no tumors; no parathyroid adenoma ; no sarcoma ; no uterine myoma ; hypotonia; seizures (generalized, complex partial seizures); EEG abnormal; dysmorphic features, coarse facial features; Prominant ears; left ear pits (posterior); dimples ear lobes; uplifted ear lobes; downslanting palpebral fissures; periorbital fullness; broad nasal tip; overhanging columella; bitemporal narrowing; long, grooved chin; smooth long philtrum, thin upper lip, high arched palate, thickened gums , crossbite; broad eyebrows (thickend medially and sparse laterally), fair and fine hair, hair whorl; hypospadias, unilateral cryptorchodism; right inguinal hernia, umbilical hernia; joint limitations elbows, knees, small joints hands, short 4th MT, overriding toes 4-5, spindle shaped fingers, small toe nails, thoracic scoliosis, platyspondyly and irregular end plates, Hyperlaxity DIP joints, deep-set hyperconvex toe nails, hallus valgus, large fleshy hands; supernumerary teeth, macroglossia (tongue reduction) ; soft skin, keratosis pilaris, hypotrichosis (HH), few melanocytic naevi, nevus flameus (forehead); excessive drooling (surgery for salivary gland >dry mouth), tonsillectomy and adenoidectomy; DEXA scan osteoporosis (Z -2.8)" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000352938" "05611" "00467785" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "BFLS" "neurodevelopmental disorder" "" "0000354353" "00198" "00469200" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000016830" "00016861" "1" "00714" "00714" "2014-06-04 16:30:18" "" "" "PCR" "DNA" "" "" "0000050580" "00050635" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000087226" "00087089" "1" "00006" "00006" "2016-11-11 09:22:13" "" "" "SEQ" "DNA" "" "" "0000087227" "00087090" "1" "00006" "00006" "2016-11-11 09:26:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000184073" "00183115" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000296107" "00294939" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316192" "00315016" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000375999" "00374805" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000407024" "00405783" "1" "01164" "01164" "2022-03-22 13:41:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000449724" "00448149" "1" "00006" "00006" "2024-02-21 16:36:37" "" "" "SEQ" "DNA" "" "" "0000469451" "00467785" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000470868" "00469200" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000016830" "PHF6" "0000087226" "PHF6" "0000087227" "PHF6" "0000184073" "PHF6" "0000316192" "PHF6" "0000375999" "PHF6" "0000407024" "PHF6" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 57 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000002160" "20" "50" "X" "133561101" "133561101" "dup" "0" "00037" "PHF6_000013" "g.133561101dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134427071dup" "" "VUS" "" "0000003247" "20" "50" "X" "133561101" "133561101" "dup" "0" "00037" "PHF6_000019" "g.133561101dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134427071dup" "" "VUS" "" "0000007665" "20" "50" "X" "133511988" "133511988" "subst" "0.776085" "00037" "PHF6_000001" "g.133511988G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134377958G>A" "" "VUS" "" "0000007666" "20" "50" "X" "133528116" "133528116" "subst" "0" "00037" "PHF6_000004" "g.133528116A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134394086A>C" "" "VUS" "" "0000007667" "20" "50" "X" "133528186" "133528186" "subst" "0" "00037" "PHF6_000007" "g.133528186C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134394156C>T" "" "VUS" "" "0000007668" "20" "50" "X" "133552501" "133552501" "subst" "0" "00037" "PHF6_000010" "g.133552501A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134418471A>G" "" "VUS" "" "0000007669" "20" "50" "X" "133561242" "133561242" "subst" "0" "00037" "PHF6_000016" "g.133561242G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134427212G>A" "" "VUS" "" "0000009803" "20" "50" "X" "133511988" "133511988" "subst" "0.776085" "00037" "PHF6_000001" "g.133511988G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134377958G>A" "" "VUS" "" "0000009804" "20" "50" "X" "133528116" "133528116" "subst" "0" "00037" "PHF6_000004" "g.133528116A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134394086A>C" "" "VUS" "" "0000009805" "20" "50" "X" "133528186" "133528186" "subst" "0" "00037" "PHF6_000007" "g.133528186C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134394156C>T" "" "VUS" "" "0000009806" "20" "50" "X" "133552501" "133552501" "subst" "0" "00037" "PHF6_000010" "g.133552501A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134418471A>G" "" "VUS" "" "0000009807" "0" "50" "X" "133561101" "133561101" "dup" "0" "00037" "PHF6_000013" "g.133561101dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134427071dup" "" "VUS" "" "0000009808" "0" "50" "X" "133561100" "133561101" "dup" "0" "00037" "PHF6_000015" "g.133561100_133561101dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134427070_134427071dup" "" "VUS" "" "0000009809" "20" "50" "X" "133561242" "133561242" "subst" "0" "00037" "PHF6_000016" "g.133561242G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134427212G>A" "" "VUS" "" "0000011220" "20" "50" "X" "133561101" "133561101" "dup" "0" "00037" "PHF6_000019" "g.133561101dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.134427071dup" "" "VUS" "" "0000036728" "21" "70" "X" "133547954" "133547954" "subst" "0" "00714" "PHF6_000020" "g.133547954T>A" "" "{PMID:Tzschach 2015:25649377}" "" "" "" "Germline" "" "" "0" "" "" "g.134413924T>A" "" "likely pathogenic" "" "0000079560" "0" "90" "X" "133497872" "133839837" "del" "0" "00006" "HPRT1_000008" "g.133497872_133839837del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.134363842_134705807del" "" "pathogenic" "" "0000140352" "0" "90" "X" "133547944" "133547944" "del" "0" "00006" "PHF6_000021" "g.133547944del" "" "{PMID:Wieczorek 2013:23906836}" "" "677delG" "" "De novo" "" "" "0" "" "" "g.134413914del" "" "pathogenic" "" "0000140353" "0" "70" "X" "133551278" "133551278" "subst" "0" "00006" "PHF6_000022" "g.133551278G>T" "" "{PMID:Wieczorek 2013:23906836}" "" "" "" "De novo" "" "" "0" "" "" "g.134417248G>T" "" "likely pathogenic" "" "0000251666" "0" "10" "X" "133511879" "133511879" "del" "0" "02326" "PHF6_000033" "g.133511879del" "" "" "" "PHF6(NM_032458.3):c.138+94delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134377849del" "" "benign" "" "0000300736" "0" "10" "X" "133527698" "133527698" "del" "0" "02326" "PHF6_000024" "g.133527698del" "" "" "" "PHF6(NM_032458.3):c.374+34delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134393668del" "" "benign" "" "0000300737" "0" "10" "X" "133549035" "133549035" "subst" "0.000893075" "02326" "PHF6_000026" "g.133549035T>G" "" "" "" "PHF6(NM_032458.3):c.730-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134415005T>G" "" "benign" "" "0000335583" "0" "30" "X" "133548000" "133548000" "subst" "0.001905" "01804" "PHF6_000025" "g.133548000A>G" "" "" "" "PHF6(NM_001015877.2):c.729+4A>G, PHF6(NM_032458.3):c.729+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134413970A>G" "" "likely benign" "" "0000346415" "0" "90" "X" "133547953" "133547953" "subst" "0" "02327" "PHF6_000029" "g.133547953A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134413923A>G" "" "pathogenic" "" "0000346685" "0" "90" "X" "133551304" "133551304" "subst" "0" "02327" "PHF6_000032" "g.133551304A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134417274A>G" "" "pathogenic" "" "0000347507" "0" "30" "X" "133549143" "133549143" "subst" "0" "02327" "PHF6_000030" "g.133549143A>G" "" "" "" "PHF6(NM_032458.2):c.827A>G (p.K276R), PHF6(NM_032458.3):c.827A>G (p.K276R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134415113A>G" "" "likely benign" "" "0000348819" "0" "50" "X" "133547863" "133547863" "subst" "0" "02327" "PHF6_000027" "g.133547863C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134413833C>G" "" "VUS" "" "0000350037" "0" "70" "X" "133551301" "133551301" "subst" "0" "02327" "PHF6_000031" "g.133551301T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.134417271T>A" "" "likely pathogenic" "" "0000408042" "21" "90" "X" "133549074" "133549074" "subst" "0" "00006" "PHF6_000034" "g.133549074C>A" "" "{PMID:Hu 2016:25644381}" "" "PHF6 T254K" "" "Germline" "yes" "" "0" "" "" "g.134415044C>A" "" "pathogenic" "" "0000573631" "0" "30" "X" "133527518" "133527518" "subst" "8.45056E-5" "02326" "PHF6_000035" "g.133527518C>T" "" "" "" "PHF6(NM_032458.3):c.241-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134393488C>T" "" "likely benign" "" "0000573632" "0" "30" "X" "133527672" "133527672" "subst" "0.0104831" "01804" "PHF6_000036" "g.133527672T>C" "" "" "" "PHF6(NM_001015877.2):c.374+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134393642T>C" "" "likely benign" "" "0000573633" "0" "30" "X" "133527971" "133527971" "subst" "5.60478E-6" "01943" "PHF6_000037" "g.133527971A>G" "" "" "" "PHF6(NM_032458.2):c.407A>G (p.H136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134393941A>G" "" "likely benign" "" "0000573634" "0" "50" "X" "133547589" "133547589" "subst" "5.62063E-5" "01943" "PHF6_000038" "g.133547589C>T" "" "" "" "PHF6(NM_032458.2):c.487C>T (p.R163C), PHF6(NM_032458.3):c.487C>T (p.R163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134413559C>T" "" "VUS" "" "0000573635" "0" "30" "X" "133548000" "133548000" "subst" "0.001905" "02326" "PHF6_000025" "g.133548000A>G" "" "" "" "PHF6(NM_001015877.2):c.729+4A>G, PHF6(NM_032458.3):c.729+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134413970A>G" "" "likely benign" "" "0000573636" "0" "50" "X" "133549143" "133549143" "subst" "0" "02325" "PHF6_000030" "g.133549143A>G" "" "" "" "PHF6(NM_032458.2):c.827A>G (p.K276R), PHF6(NM_032458.3):c.827A>G (p.K276R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134415113A>G" "" "VUS" "" "0000624432" "0" "30" "X" "133511773" "133511773" "subst" "1.6832E-5" "01943" "PHF6_000040" "g.133511773C>T" "" "" "" "PHF6(NM_032458.2):c.126C>T (p.H42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.134377743C>T" "" "likely benign" "" "0000652796" "1" "90" "X" "133511650" "133511650" "subst" "0" "03575" "PHF6_000041" "g.133511650G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398124428}" "Germline" "" "rs398124428" "0" "" "" "g.134377620G>T" "" "pathogenic" "" "0000682109" "0" "30" "X" "133512024" "133512028" "del" "0" "01943" "PHF6_000042" "g.133512024_133512028del" "" "" "" "PHF6(NM_032458.2):c.139-11_139-7delGTAAT, PHF6(NM_032458.3):c.139-11_139-7delGTAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693359" "0" "30" "X" "133547981" "133547981" "subst" "8.40247E-5" "01943" "PHF6_000043" "g.133547981C>T" "" "" "" "PHF6(NM_032458.2):c.714C>T (p.A238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693360" "0" "50" "X" "133549143" "133549143" "subst" "0" "01943" "PHF6_000030" "g.133549143A>G" "" "" "" "PHF6(NM_032458.2):c.827A>G (p.K276R), PHF6(NM_032458.3):c.827A>G (p.K276R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698342" "0" "70" "X" "133551224" "133551224" "subst" "5.60168E-6" "00006" "PHF6_000044" "g.133551224G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.134417194G>A" "" "likely pathogenic" "ACMG" "0000728441" "0" "30" "X" "133512024" "133512028" "del" "0" "02330" "PHF6_000042" "g.133512024_133512028del" "" "" "" "PHF6(NM_032458.2):c.139-11_139-7delGTAAT, PHF6(NM_032458.3):c.139-11_139-7delGTAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728442" "0" "50" "X" "133512056" "133512056" "subst" "0" "02329" "PHF6_000023" "g.133512056T>G" "" "" "" "PHF6(NM_032458.3):c.160T>G (p.S54A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728443" "0" "30" "X" "133527518" "133527518" "subst" "8.45056E-5" "02330" "PHF6_000035" "g.133527518C>T" "" "" "" "PHF6(NM_032458.3):c.241-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728444" "0" "50" "X" "133549143" "133549143" "subst" "0" "02330" "PHF6_000030" "g.133549143A>G" "" "" "" "PHF6(NM_032458.2):c.827A>G (p.K276R), PHF6(NM_032458.3):c.827A>G (p.K276R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728445" "0" "30" "X" "133549255" "133549255" "subst" "0" "02330" "PHF6_000045" "g.133549255C>T" "" "" "" "PHF6(NM_032335.3):c.*3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787350" "0" "50" "X" "133549116" "133549116" "subst" "0" "00006" "PHF6_000046" "g.133549116C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.134415086C>T" "" "VUS" "" "0000809911" "0" "50" "X" "133512095" "133512095" "subst" "1.12787E-5" "02330" "PHF6_000047" "g.133512095A>G" "" "" "" "PHF6(NM_032458.3):c.199A>G (p.I67V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000843474" "21" "50" "X" "133527947" "133527947" "subst" "0" "01164" "PHF6_000048" "g.133527947G>A" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000856354" "0" "30" "X" "133527963" "133527963" "subst" "0.000224394" "01943" "PHF6_000049" "g.133527963A>G" "" "" "" "PHF6(NM_032458.2):c.399A>G (p.K133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856355" "0" "50" "X" "133547536" "133547536" "subst" "0" "02329" "PHF6_000050" "g.133547536G>A" "" "" "" "PHF6(NM_032458.3):c.434G>A (p.S145N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856356" "0" "50" "X" "133547589" "133547589" "subst" "5.62063E-5" "02330" "PHF6_000038" "g.133547589C>T" "" "" "" "PHF6(NM_032458.2):c.487C>T (p.R163C), PHF6(NM_032458.3):c.487C>T (p.R163C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960206" "0" "30" "X" "133520076" "133522724" "dup" "0" "00006" "PHF6_000051" "g.(?_133520076)_(133522724_?)dup" "" "{PMID:Shepherdson 2024:38325380}, {DOI:Shepherdson 2024:10.1016/j.ajhg.2024.01.007}" "" "" "variant judged not clinically significant" "De novo" "" "" "0" "" "Xq26.2(133,347,742-133,350,390)x0" "g.(?_134386046)_(134388694_?)dup" "" "VUS" "" "0001006444" "0" "30" "X" "133512071" "133512071" "subst" "0" "01804" "PHF6_000052" "g.133512071A>G" "" "" "" "PHF6(NM_001015877.1):c.175A>G (p.(Asn59Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044113" "0" "30" "X" "133513661" "133513661" "subst" "0" "01804" "PHF6_000053" "g.133513661G>A" "" "" "" "PHF6(NM_001015877.2):c.240+1525G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049749" "0" "90" "X" "133527545" "133527545" "subst" "0" "00006" "PHF6_000054" "g.133527545C>A" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PVS1, PS2, PM2" "De novo" "" "" "0" "" "" "g.134393515C>A" "" "pathogenic" "" "0001058990" "0" "90" "X" "133551217" "133551217" "subst" "0" "00006" "PHF6_000055" "g.133551217C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.134417187C>T" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PHF6 ## Count = 57 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000002160" "00024195" "00" "2509" "0" "2509" "0" "c.*1411dup" "r.(=)" "p.(=)" "" "0000003247" "00024195" "00" "2509" "0" "2509" "0" "c.*1411dup" "r.(=)" "p.(=)" "" "0000007665" "00024195" "00" "139" "-47" "139" "-47" "c.139-47G>A" "r.(=)" "p.(=)" "" "0000007666" "00024195" "00" "418" "134" "418" "134" "c.418+134A>C" "r.(=)" "p.(=)" "" "0000007667" "00024195" "00" "418" "204" "418" "204" "c.418+204C>T" "r.(=)" "p.(=)" "" "0000007668" "00024195" "00" "968" "1169" "968" "1169" "c.968+1169A>G" "r.(=)" "p.(=)" "" "0000007669" "00024195" "00" "2650" "0" "2650" "0" "c.*1552G>A" "r.(=)" "p.(=)" "" "0000009803" "00024195" "00" "139" "-47" "139" "-47" "c.139-47G>A" "r.(=)" "p.(=)" "" "0000009804" "00024195" "00" "418" "134" "418" "134" "c.418+134A>C" "r.(=)" "p.(=)" "" "0000009805" "00024195" "00" "418" "204" "418" "204" "c.418+204C>T" "r.(=)" "p.(=)" "" "0000009806" "00024195" "00" "968" "1169" "968" "1169" "c.968+1169A>G" "r.(=)" "p.(=)" "" "0000009807" "00024195" "00" "2509" "0" "2509" "0" "c.*1411dup" "r.(=)" "p.(=)" "" "0000009808" "00024195" "00" "2508" "0" "2509" "0" "c.*1410_*1411dup" "r.(=)" "p.(=)" "" "0000009809" "00024195" "00" "2650" "0" "2650" "0" "c.*1552G>A" "r.(=)" "p.(=)" "" "0000011220" "00024195" "00" "2509" "0" "2509" "0" "c.*1411dup" "r.(=)" "p.(=)" "" "0000036728" "00024195" "70" "687" "0" "687" "0" "c.687T>A" "r.(?)" "p.(His229Gln)" "7" "0000079560" "00024195" "00" "-9673" "0" "281244" "0" "c.-9673_*280146del" "r.0?" "p.0?" "" "0000140352" "00024195" "90" "677" "0" "677" "0" "c.677del" "r.(?)" "p.(Gly226Glufs*53)" "7" "0000140353" "00024195" "70" "914" "0" "914" "0" "c.914G>T" "r.(?)" "p.(Cys305Phe)" "9" "0000251666" "00024195" "10" "138" "94" "138" "94" "c.138+94del" "r.(=)" "p.(=)" "" "0000300736" "00024195" "10" "374" "34" "374" "34" "c.374+34del" "r.(=)" "p.(=)" "" "0000300737" "00024195" "10" "730" "-11" "730" "-11" "c.730-11T>G" "r.(=)" "p.(=)" "" "0000335583" "00024195" "30" "729" "4" "729" "4" "c.729+4A>G" "r.spl?" "p.?" "" "0000346415" "00024195" "90" "686" "0" "686" "0" "c.686A>G" "r.(?)" "p.(His229Arg)" "" "0000346685" "00024195" "90" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Ile314Val)" "" "0000347507" "00024195" "30" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Lys276Arg)" "" "0000348819" "00024195" "50" "596" "0" "596" "0" "c.596C>G" "r.(?)" "p.(Ser199Cys)" "" "0000350037" "00024195" "70" "937" "0" "937" "0" "c.937T>A" "r.(?)" "p.(Tyr313Asn)" "" "0000408042" "00024195" "00" "758" "0" "758" "0" "c.758C>A" "r.(?)" "p.(Thr253Lys)" "" "0000573631" "00024195" "30" "241" "-13" "241" "-13" "c.241-13C>T" "r.(=)" "p.(=)" "" "0000573632" "00024195" "30" "374" "8" "374" "8" "c.374+8T>C" "r.(=)" "p.(=)" "" "0000573633" "00024195" "30" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(His136Arg)" "" "0000573634" "00024195" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000573635" "00024195" "30" "729" "4" "729" "4" "c.729+4A>G" "r.spl?" "p.?" "" "0000573636" "00024195" "50" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Lys276Arg)" "" "0000624432" "00024195" "30" "126" "0" "126" "0" "c.126C>T" "r.(?)" "p.(His42=)" "" "0000652796" "00024195" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000682109" "00024195" "30" "139" "-11" "139" "-7" "c.139-11_139-7del" "r.(=)" "p.(=)" "" "0000693359" "00024195" "30" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Ala238=)" "" "0000693360" "00024195" "50" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Lys276Arg)" "" "0000698342" "00024195" "70" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Gly287Asp)" "7" "0000728441" "00024195" "30" "139" "-11" "139" "-7" "c.139-11_139-7del" "r.(=)" "p.(=)" "" "0000728442" "00024195" "50" "160" "0" "160" "0" "c.160T>G" "r.(?)" "p.(Ser54Ala)" "" "0000728443" "00024195" "30" "241" "-13" "241" "-13" "c.241-13C>T" "r.(=)" "p.(=)" "" "0000728444" "00024195" "50" "827" "0" "827" "0" "c.827A>G" "r.(?)" "p.(Lys276Arg)" "" "0000728445" "00024195" "30" "834" "105" "834" "105" "c.834+105C>T" "r.(=)" "p.(=)" "" "0000787350" "00024195" "50" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Thr267Ile)" "8" "0000809911" "00024195" "50" "199" "0" "199" "0" "c.199A>G" "r.(?)" "p.(Ile67Val)" "" "0000843474" "00024195" "50" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Cys128Tyr)" "" "0000856354" "00024195" "30" "399" "0" "399" "0" "c.399A>G" "r.(?)" "p.(Lys133=)" "" "0000856355" "00024195" "50" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Ser145Asn)" "" "0000856356" "00024195" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "" "0000960206" "00024195" "30" "241" "-4807" "241" "1" "c.(241+1_241-7455)_(241-4807_241-1)dup" "r.(?)" "p.(=)" "" "0001006444" "00024195" "30" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Asn59Asp)" "" "0001044113" "00024195" "30" "240" "1525" "240" "1525" "c.240+1525G>A" "r.(=)" "p.(=)" "" "0001049749" "00024195" "90" "255" "0" "255" "0" "c.255C>A" "r.(?)" "p.(Cys85Ter)" "" "0001058990" "00024195" "90" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Gln285Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002160" "0000000209" "0000003247" "0000000209" "0000007665" "0000000209" "0000007666" "0000000209" "0000007667" "0000000209" "0000007668" "0000000209" "0000007669" "0000000210" "0000009803" "0000000210" "0000009804" "0000000210" "0000009805" "0000000210" "0000009806" "0000000210" "0000009807" "0000000210" "0000009808" "0000000210" "0000009809" "0000000210" "0000011220" "0000016830" "0000036728" "0000050580" "0000079560" "0000087226" "0000140352" "0000087227" "0000140353" "0000184073" "0000408042" "0000296107" "0000652796" "0000316192" "0000698342" "0000375999" "0000787350" "0000407024" "0000843474" "0000449724" "0000960206" "0000469451" "0001049749" "0000470868" "0001058990"