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Mendeliome v2.410 PRDM1 chirag patel Marked gene: PRDM1 as ready
Mendeliome v2.410 PRDM1 chirag patel Gene: prdm1 has been classified as Green List (High Evidence).
Mendeliome v2.410 chirag patel Copied gene PRDM1 from panel Skeletal dysplasia
Mendeliome v2.410 PRDM1 chirag patel gene: PRDM1 was added
gene: PRDM1 was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM1 were set to 38456586; 37083955
Phenotypes for gene: PRDM1 were set to Split hand-foot malformation MONDO:0016576, PRDM1-related
Mendeliome v2.144 PRDM10 Bryony Thompson Publications for gene: PRDM10 were set to 36440963
Mendeliome v2.143 PRDM10 Bryony Thompson Classified gene: PRDM10 as Amber List (moderate evidence)
Mendeliome v2.143 PRDM10 Bryony Thompson Gene: prdm10 has been classified as Amber List (Moderate Evidence).
Mendeliome v2.133 PRDM10 Sangavi Sivagnanasundram reviewed gene: PRDM10: Rating: AMBER; Mode of pathogenicity: None; Publications: 37331486, 40028672; Phenotypes: Birt–Hogg–Dubé syndrome MONDO:0800444; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v2.0 PRDM12_HSAN8_GCC STR PRDM12_HSAN8_GCC: gene migrated from ENSG00000130711 to ENSG00000130711 (gene set migration)
Mendeliome v1.4474 PRDM15 Lucy Spencer Phenotypes for gene: PRDM15 were changed from Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related; Galloway-Mowat syndrome MONDO:0009627, PRDM15-related to Galloway-Mowat syndrome MONDO:0009627, PRDM15-related
Mendeliome v1.4473 PRDM15 Lucy Spencer reviewed gene: PRDM15: Rating: GREEN; Mode of pathogenicity: None; Publications: 31950080, 33593823; Phenotypes: Galloway-Mowat syndrome MONDO:0009627, PRDM15-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.4473 PRDM15 Lucy Spencer Phenotypes for gene: PRDM15 were changed from Multiple congenital anomalies MONDO:0019042, PRDM15-related to Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related; Galloway-Mowat syndrome MONDO:0009627, PRDM15-related
Mendeliome v1.4472 PRDM15 Lucy Spencer Classified gene: PRDM15 as Green List (high evidence)
Mendeliome v1.4472 PRDM15 Lucy Spencer Gene: prdm15 has been classified as Green List (High Evidence).
Mendeliome v1.4471 PRDM15 Lucy Spencer reviewed gene: PRDM15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33593823, 31950080; Phenotypes: Steroid-resistant nephrotic syndrome MONDO:0044765, PRDM15-related, Galloway-Mowat syndrome MONDO:0009627, PRDM15-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.4027 PRDM15 Lucy Spencer Phenotypes for gene: PRDM15 were changed from Steroid resistant nephrotic syndrome; Holoprosencephaly to Multiple congenital anomalies MONDO:0019042, PRDM15-related
Mendeliome v1.3954 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders
Mendeliome v1.3954 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.
Mode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: PRDM12_HSAN8_GCC were set to 26005867
Phenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
Mendeliome v1.1085 PRDM10 Zornitza Stark Phenotypes for gene: PRDM10 were changed from Fibrofolliculoma, HP:0030436; lipomatosis, MONDO:0006574; renal cell carcinoma, MONDO:0005086 to Birt-Hogg-Dube syndrome 2, MIM# 620459
Mendeliome v1.1084 PRDM10 Zornitza Stark reviewed gene: PRDM10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Birt-Hogg-Dube syndrome 2, MIM# 620459; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.753 PRDM10 Zornitza Stark Marked gene: PRDM10 as ready
Mendeliome v1.753 PRDM10 Zornitza Stark Gene: prdm10 has been classified as Red List (Low Evidence).
Mendeliome v1.753 PRDM10 Zornitza Stark Classified gene: PRDM10 as Red List (low evidence)
Mendeliome v1.753 PRDM10 Zornitza Stark Gene: prdm10 has been classified as Red List (Low Evidence).
Mendeliome v1.752 PRDM10 Achchuthan Shanmugasundram gene: PRDM10 was added
gene: PRDM10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRDM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM10 were set to 36440963
Phenotypes for gene: PRDM10 were set to Fibrofolliculoma, HP:0030436; lipomatosis, MONDO:0006574; renal cell carcinoma, MONDO:0005086
Review for gene: PRDM10 was set to RED
Added comment: PMID:36440963 reported a family presenting with skin and mucosal lesions, extensive lipomatosis and renal cell carcinomas. The proband was initially diagnosed with Birt-Hogg-Dubé syndrome (BHD, MIM #135150) based on the presence of fibrofolliculomas, but no pathogenic germline variant was detected in FLCN, the gene associated with BHD. A heterozygous missense variant (p.Cys677Tyr) was identified, which co-segregated with the phenotype in the family.

Functional studies show that Cys677Tyr loses affinity for a regulatory binding motif in the FLCN promoter, abrogating cellular FLCN mRNA and protein levels. Overexpressing inducible PRDM10Cys677Tyr in renal epithelial cells altered the transcription of multiple genes, showing overlap but also differences with the effects of knocking out FLCN.

This gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Mendeliome v1.420 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to 23768516; 29367541; 34915728; 31965688; 29367541
Mendeliome v1.419 PRDM16 Zornitza Stark Classified gene: PRDM16 as Green List (high evidence)
Mendeliome v1.419 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Mendeliome v1.418 PRDM16 Paul De Fazio reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Mendeliome v1.68 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Chorioretinal atrophy, progressive bifocal, MIM# 600790; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761 to Chorioretinal atrophy, progressive bifocal, MIM# 600790; Pontocerebellar hypoplasia, type 17, MIM# 619909; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976
Mendeliome v1.67 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to 30710461; 34730112; 35390279
Mendeliome v1.66 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Added comment: Note only single family reported with Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976 -- this likely lies on the same spectrum as Pontocerebellar hypoplasia, type 17, MIM# 619909 rather than being a distinct disorder.; Changed publications: 30710461, 34730112; Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790, Pontocerebellar hypoplasia, type 17, MIM# 619909, Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 61976; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.33 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Chorioretinal atrophy, progressive bifocal, MIM# 600790; Cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism, MIM# 619761
Mendeliome v0.13788 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770 to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770
Mendeliome v0.13787 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to 30710461; 34730112
Mendeliome v0.13784 PRDM13 Dean Phelan reviewed gene: PRDM13: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35390279; Phenotypes: Pontocerebellar hypoplasia (MONDO:0020135), PRDM13 related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.13047 PRDM16 Zornitza Stark Marked gene: PRDM16 as ready
Mendeliome v0.13047 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13047 PRDM16 Zornitza Stark Phenotypes for gene: PRDM16 were changed from to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Mendeliome v0.13046 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to
Mendeliome v0.13045 PRDM16 Zornitza Stark Mode of inheritance for gene: PRDM16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.13044 PRDM16 Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence)
Mendeliome v0.13044 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.13043 PRDM16 Zornitza Stark reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: None; Publications: 23768516, 29367541, 34915728, 31965688, 29367541; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.10567 PRDM13 Zornitza Stark Tag founder tag was added to gene: PRDM13.
Mendeliome v0.10567 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790 to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790; intellectual disability, MONDO:0001071, PRDM13-associated; ataxia with cerebellar hypoplasia, MONDO:0016054, PRDM13-associated; congenital hypogonadotropic hypogonadism, MONDO:0015770
Mendeliome v0.10566 PRDM13 Zornitza Stark Publications for gene: PRDM13 were set to 30710461
Mendeliome v0.10565 PRDM13 Zornitza Stark Mode of inheritance for gene: PRDM13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.10564 PRDM13 Zornitza Stark Marked gene: PRDM13 as ready
Mendeliome v0.10564 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.10561 PRDM13 Seb Lunke reviewed gene: PRDM13: Rating: AMBER; Mode of pathogenicity: None; Publications: 34730112; Phenotypes: intellectual disability, MONDO:0001071, PRDM13-associated, ataxia with cerebellar hypoplasia, MONDO:MONDO:0016054. PRDM13-associated, congenital hypogonadotropic hypogonadism, MONDO:0015770 Edit; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7584 PRDM12 Zornitza Stark Marked gene: PRDM12 as ready
Mendeliome v0.7584 PRDM12 Zornitza Stark Gene: prdm12 has been classified as Green List (High Evidence).
Mendeliome v0.7584 PRDM12 Zornitza Stark Phenotypes for gene: PRDM12 were changed from to Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488; MONDO:0014662
Mendeliome v0.7583 PRDM12 Zornitza Stark Publications for gene: PRDM12 were set to
Mendeliome v0.7582 PRDM12 Zornitza Stark Mode of inheritance for gene: PRDM12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7581 PRDM12 Zornitza Stark reviewed gene: PRDM12: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005867, 33789102, 33010785, 32828702; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488, MONDO:0014662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.7340 PRDM15 Zornitza Stark Marked gene: PRDM15 as ready
Mendeliome v0.7340 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7340 PRDM15 Zornitza Stark Classified gene: PRDM15 as Amber List (moderate evidence)
Mendeliome v0.7340 PRDM15 Zornitza Stark Gene: prdm15 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.7339 PRDM15 Zornitza Stark gene: PRDM15 was added
gene: PRDM15 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080
Phenotypes for gene: PRDM15 were set to Steroid resistant nephrotic syndrome; Holoprosencephaly
Review for gene: PRDM15 was set to AMBER
Added comment: Four consanguineous families reported with same homozygous variant, C844Y, shown to be LoF. Syndromic SRNS including HPE, brain malformations, polydactyly, congenital heart disease. Mouse model, extensive functional data focused on the brain phenotype. Two additional homozygous missense identified with isolated SRNS.
Sources: Literature
Mendeliome v0.6153 PRDM13 Zornitza Stark Phenotypes for gene: PRDM13 were changed from Retinal dystrophy to Retinal dystrophy; Chorioretinal atrophy, progressive bifocal, MIM# 600790
Mendeliome v0.6152 PRDM13 Zornitza Stark edited their review of gene: PRDM13: Changed phenotypes: Retinal dystrophy, Chorioretinal atrophy, progressive bifocal, MIM# 600790
Mendeliome v0.4892 PRDM13 Zornitza Stark Tag SV/CNV tag was added to gene: PRDM13.
Tag 5'UTR tag was added to gene: PRDM13.
Mendeliome v0.362 PRDM13 Zornitza Stark Marked gene: PRDM13 as ready
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.362 PRDM13 Zornitza Stark Classified gene: PRDM13 as Green List (high evidence)
Mendeliome v0.362 PRDM13 Zornitza Stark Gene: prdm13 has been classified as Green List (High Evidence).
Mendeliome v0.361 PRDM13 Zornitza Stark gene: PRDM13 was added
gene: PRDM13 was added to Mendeliome_VCGS. Sources: Literature
Mode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM13 were set to 30710461
Phenotypes for gene: PRDM13 were set to Retinal dystrophy
Mode of pathogenicity for gene: PRDM13 was set to Other
Review for gene: PRDM13 was set to GREEN
Added comment: 8 individuals from three families reported with UPSTREAM NON-CODING variants in this gene.
Sources: Literature
Mendeliome v0.0 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRDM16 was set to Unknown
Mendeliome v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PRDM12 was set to Unknown