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Hypertrichosis syndromes v0.46 KCNN3 Elena Savva Classified gene: KCNN3 as Amber List (moderate evidence)
Hypertrichosis syndromes v0.46 KCNN3 Elena Savva Gene: kcnn3 has been classified as Amber List (Moderate Evidence).
Hypertrichosis syndromes v0.45 KCNN3 Elena Savva Marked gene: KCNN3 as ready
Hypertrichosis syndromes v0.45 KCNN3 Elena Savva Gene: kcnn3 has been classified as Red List (Low Evidence).
Hypertrichosis syndromes v0.45 KCNN3 Elena Savva gene: KCNN3 was added
gene: KCNN3 was added to Hypertrichosis syndromes. Sources: Literature
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNN3 were set to 34907639
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3 MIM#618658
Review for gene: KCNN3 was set to AMBER
Added comment: PMID: 34907639 - literature review of previous ZLS patients, describes hypertrichosis as mild/moderate on trunk and limbs (3/7), or synophrys (4/7) in all patients
Sources: Literature
Hypertrichosis syndromes v0.44 BRD4 Zornitza Stark Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome, MONDO:0016033 to Cornelia de Lange syndrome 6, MIM# 620568
Hypertrichosis syndromes v0.43 BRD4 Zornitza Stark edited their review of gene: BRD4: Changed phenotypes: Cornelia de Lange syndrome 6, MIM# 620568
Hypertrichosis syndromes v0.43 DCAF15 Zornitza Stark Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related
Hypertrichosis syndromes v0.42 DCAF15 Zornitza Stark Marked gene: DCAF15 as ready
Hypertrichosis syndromes v0.42 DCAF15 Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence).
Hypertrichosis syndromes v0.42 DCAF15 Zornitza Stark Classified gene: DCAF15 as Amber List (moderate evidence)
Hypertrichosis syndromes v0.42 DCAF15 Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence).
Hypertrichosis syndromes v0.41 DCAF15 Chirag Patel gene: DCAF15 was added
gene: DCAF15 was added to Hypertrichosis syndromes. Sources: Other
Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome
Review for gene: DCAF15 was set to AMBER
Added comment: ESHG 2023:
3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)
Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.

WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3).

Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli.
Sources: Other
Hypertrichosis syndromes v0.41 DCAF15 Chirag Patel gene: DCAF15 was added
gene: DCAF15 was added to Hypertrichosis syndromes. Sources: Other
Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome
Review for gene: DCAF15 was set to AMBER
Added comment: ESHG 2023:
3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child)
Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment.

WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3).

Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli.
Sources: Other
Hypertrichosis syndromes v0.40 Zornitza Stark HPO terms changed from to Hypertrichosis, HP:0000998
List of related panels changed from to Hypertrichosis; HP:0000998
Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
Hypertrichosis syndromes v0.38 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Hypertrichosis syndromes v0.37 SMARCE1 Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.36 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.36 BRD4 Zornitza Stark Phenotypes for gene: BRD4 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033
Hypertrichosis syndromes v0.35 FGF5 Zornitza Stark Marked gene: FGF5 as ready
Hypertrichosis syndromes v0.35 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.35 FGF5 Zornitza Stark Classified gene: FGF5 as Green List (high evidence)
Hypertrichosis syndromes v0.35 FGF5 Zornitza Stark Gene: fgf5 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.34 FGF5 Zornitza Stark gene: FGF5 was added
gene: FGF5 was added to Hypertrichosis syndromes. Sources: Literature
Mode of inheritance for gene: FGF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF5 were set to 24989505
Phenotypes for gene: FGF5 were set to Hypertrichosis
Review for gene: FGF5 was set to GREEN
Added comment: Two families reported, aware of additional unpublished case.
Sources: Literature
Hypertrichosis syndromes v0.33 RAD21 Zornitza Stark Marked gene: RAD21 as ready
Hypertrichosis syndromes v0.33 RAD21 Zornitza Stark Gene: rad21 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.33 RAD21 Zornitza Stark Phenotypes for gene: RAD21 were changed from to Cornelia de Lange syndrome 4, MIM # 614701
Hypertrichosis syndromes v0.32 RAD21 Zornitza Stark Publications for gene: RAD21 were set to
Hypertrichosis syndromes v0.31 RAD21 Zornitza Stark Mode of inheritance for gene: RAD21 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.30 RAD21 Zornitza Stark commented on gene: RAD21: Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 1% of patients have mutations in RAD21 gene.

Deardorff et al. (2012) reported 6 patients with CdLS phenotype with heterozygous variants (4 microdeletions incl RAD21, and 2 missense variants), showing functional evidence for the missense variants.

Krab et al. (2020) reported the clinical and molecular data in 29 patients from 22 families with CDLS4 and RAD21 variants

Many other case reports.
Hypertrichosis syndromes v0.30 RAD21 Zornitza Stark reviewed gene: RAD21: Rating: GREEN; Mode of pathogenicity: None; Publications: 22633399, 32193685, 27882533, 30716475, 30125677, 24378232; Phenotypes: Cornelia de Lange syndrome 4, MIM # 614701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.30 BRD4 Zornitza Stark Marked gene: BRD4 as ready
Hypertrichosis syndromes v0.30 BRD4 Zornitza Stark Gene: brd4 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.30 BRD4 Zornitza Stark Phenotypes for gene: BRD4 were changed from to Cornelia de Lange syndrome
Hypertrichosis syndromes v0.29 BRD4 Zornitza Stark Publications for gene: BRD4 were set to
Hypertrichosis syndromes v0.28 BRD4 Zornitza Stark Mode of inheritance for gene: BRD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.27 BRD4 Zornitza Stark reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 29379197, 30302754, 11997514, 34035299; Phenotypes: Cornelia de Lange syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Marked gene: AFF3 as ready
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Gene: aff3 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.27 AFF3 Zornitza Stark Phenotypes for gene: AFF3 were changed from to KINSSHIP syndrome, MIM# 619297
Hypertrichosis syndromes v0.26 AFF3 Zornitza Stark Publications for gene: AFF3 were set to
Hypertrichosis syndromes v0.25 AFF3 Zornitza Stark Mode of inheritance for gene: AFF3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.24 AFF3 Zornitza Stark reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, MIM# 619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.24 AFF4 Zornitza Stark Marked gene: AFF4 as ready
Hypertrichosis syndromes v0.24 AFF4 Zornitza Stark Gene: aff4 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.24 AFF4 Zornitza Stark Phenotypes for gene: AFF4 were changed from to CHOPS syndrome, MIM#616368; MONDO:0014609
Hypertrichosis syndromes v0.23 AFF4 Zornitza Stark Publications for gene: AFF4 were set to
Hypertrichosis syndromes v0.22 AFF4 Zornitza Stark Mode of inheritance for gene: AFF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.21 AFF4 Zornitza Stark reviewed gene: AFF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25730767, 33248856, 31630891, 31058441; Phenotypes: CHOPS syndrome, MIM#616368, MONDO:0014609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.21 ARID2 Zornitza Stark Marked gene: ARID2 as ready
Hypertrichosis syndromes v0.21 ARID2 Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.21 ARID2 Zornitza Stark Phenotypes for gene: ARID2 were changed from to Coffin-Siris syndrome 6, MIM# 617808
Hypertrichosis syndromes v0.20 ARID2 Zornitza Stark Publications for gene: ARID2 were set to
Hypertrichosis syndromes v0.19 ARID2 Zornitza Stark Mode of inheritance for gene: ARID2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.18 ARID2 Zornitza Stark reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26238514, 30838730, 29698805, 28884947, 28124119; Phenotypes: Coffin-Siris syndrome 6, MIM# 617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.18 TMEM94 Alison Yeung Classified gene: TMEM94 as Green List (high evidence)
Hypertrichosis syndromes v0.18 TMEM94 Alison Yeung Gene: tmem94 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.17 TMEM94 Alison Yeung Marked gene: TMEM94 as ready
Hypertrichosis syndromes v0.17 TMEM94 Alison Yeung Gene: tmem94 has been classified as Red List (Low Evidence).
Hypertrichosis syndromes v0.17 TMEM94 Alison Yeung gene: TMEM94 was added
gene: TMEM94 was added to Hypertrichosis syndromes. Sources: Literature
Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM94 were set to 30526868
Phenotypes for gene: TMEM94 were set to OMIM# 618316 INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES; IDDCDF
Review for gene: TMEM94 was set to GREEN
Added comment: Sources: Literature
Hypertrichosis syndromes v0.16 HDAC8 Zornitza Stark Marked gene: HDAC8 as ready
Hypertrichosis syndromes v0.16 HDAC8 Zornitza Stark Gene: hdac8 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.16 HDAC8 Zornitza Stark Phenotypes for gene: HDAC8 were changed from to Cornelia de Lange syndrome 5, MIM# 300882
Hypertrichosis syndromes v0.15 HDAC8 Zornitza Stark Publications for gene: HDAC8 were set to
Hypertrichosis syndromes v0.14 HDAC8 Zornitza Stark Mode of inheritance for gene: HDAC8 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrichosis syndromes v0.13 HDAC8 Zornitza Stark reviewed gene: HDAC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30614194, 24403048; Phenotypes: Cornelia de Lange syndrome 5, MIM# 300882; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrichosis syndromes v0.13 RPS23 Zornitza Stark Marked gene: RPS23 as ready
Hypertrichosis syndromes v0.13 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Hypertrichosis syndromes v0.13 RPS23 Zornitza Stark Phenotypes for gene: RPS23 were changed from to Brachycephaly, trichomegaly, and developmental delay, MIM# 617412
Hypertrichosis syndromes v0.12 RPS23 Zornitza Stark Publications for gene: RPS23 were set to
Hypertrichosis syndromes v0.11 RPS23 Zornitza Stark Mode of inheritance for gene: RPS23 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.10 RPS23 Zornitza Stark Classified gene: RPS23 as Amber List (moderate evidence)
Hypertrichosis syndromes v0.10 RPS23 Zornitza Stark Gene: rps23 has been classified as Amber List (Moderate Evidence).
Hypertrichosis syndromes v0.9 RPS23 Zornitza Stark reviewed gene: RPS23: Rating: AMBER; Mode of pathogenicity: None; Publications: 28257692; Phenotypes: Brachycephaly, trichomegaly, and developmental delay, MIM# 617412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.9 SMC1A Zornitza Stark Marked gene: SMC1A as ready
Hypertrichosis syndromes v0.9 SMC1A Zornitza Stark Gene: smc1a has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.9 SMC1A Zornitza Stark Phenotypes for gene: SMC1A were changed from to Cornelia de Lange syndrome 2, MIM# 300590
Hypertrichosis syndromes v0.8 SMC1A Zornitza Stark Publications for gene: SMC1A were set to
Hypertrichosis syndromes v0.7 SMC1A Zornitza Stark Mode of inheritance for gene: SMC1A was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrichosis syndromes v0.6 SMC1A Zornitza Stark reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273969, 22106055, 19701948, 26752331, 28166369; Phenotypes: Cornelia de Lange syndrome 2, MIM# 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hypertrichosis syndromes v0.6 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Hypertrichosis syndromes v0.6 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.6 KMT2A Zornitza Stark Phenotypes for gene: KMT2A were changed from to Wiedemann-Steiner syndrome, MIM# 605130 AD
Hypertrichosis syndromes v0.5 KMT2A Zornitza Stark Mode of inheritance for gene: KMT2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.4 KMT2A Zornitza Stark reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiedemann-Steiner syndrome, MIM# 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.4 Zornitza Stark Panel name changed from Hypertrichosis syndromes_VCGS to Hypertrichosis syndromes
Panel types changed to Victorian Clinical Genetics Services
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Marked gene: SETD5 as ready
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Added comment: Comment when marking as ready: PMID: 29484850: Review of all literature reporting SETD5 (table 1). Out of 42 patients described in these papers, 71.4% have motor impairment/delay, 69.0% speech impairment/delay, 23.8% eplilepsy/seizures, 38% congenital heart defects, 95.2% facial dysmorphism, 21.4% hand stereotypies/ritualised behaviour, 19% impaired vision, 42.8% muscle hypotonia and 28.6% polydactyly.
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Gene: setd5 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.3 SETD5 Zornitza Stark Phenotypes for gene: SETD5 were changed from to Intellectual disability, autosomal dominant 23 (MIM # 615761)
Hypertrichosis syndromes v0.2 SETD5 Zornitza Stark Publications for gene: SETD5 were set to
Hypertrichosis syndromes v0.1 SETD5 Zornitza Stark Mode of inheritance for gene: SETD5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.0 WAC Zornitza Stark gene: WAC was added
gene: WAC was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: WAC was set to Unknown
Hypertrichosis syndromes v0.0 SURF1 Zornitza Stark gene: SURF1 was added
gene: SURF1 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SURF1 was set to Unknown
Hypertrichosis syndromes v0.0 SMC3 Zornitza Stark gene: SMC3 was added
gene: SMC3 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMC3 was set to Unknown
Hypertrichosis syndromes v0.0 SMC1A Zornitza Stark gene: SMC1A was added
gene: SMC1A was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMC1A was set to Unknown
Hypertrichosis syndromes v0.0 SMARCE1 Zornitza Stark gene: SMARCE1 was added
gene: SMARCE1 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCE1 was set to Unknown
Hypertrichosis syndromes v0.0 SMARCB1 Zornitza Stark gene: SMARCB1 was added
gene: SMARCB1 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCB1 was set to Unknown
Hypertrichosis syndromes v0.0 SMARCA4 Zornitza Stark gene: SMARCA4 was added
gene: SMARCA4 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMARCA4 was set to Unknown
Hypertrichosis syndromes v0.0 SLC25A24 Zornitza Stark gene: SLC25A24 was added
gene: SLC25A24 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SLC25A24 was set to Unknown
Hypertrichosis syndromes v0.0 SETD5 Zornitza Stark gene: SETD5 was added
gene: SETD5 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETD5 was set to Unknown
Hypertrichosis syndromes v0.0 SETBP1 Zornitza Stark gene: SETBP1 was added
gene: SETBP1 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SETBP1 was set to Unknown
Hypertrichosis syndromes v0.0 RPS23 Zornitza Stark gene: RPS23 was added
gene: RPS23 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RPS23 was set to Unknown
Hypertrichosis syndromes v0.0 RAD21 Zornitza Stark gene: RAD21 was added
gene: RAD21 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RAD21 was set to Unknown
Hypertrichosis syndromes v0.0 PUF60 Zornitza Stark gene: PUF60 was added
gene: PUF60 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PUF60 was set to Unknown
Hypertrichosis syndromes v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHF6 was set to Unknown
Hypertrichosis syndromes v0.0 NIPBL Zornitza Stark gene: NIPBL was added
gene: NIPBL was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NIPBL was set to Unknown
Hypertrichosis syndromes v0.0 KMT2D Zornitza Stark gene: KMT2D was added
gene: KMT2D was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2D was set to Unknown
Hypertrichosis syndromes v0.0 KMT2A Zornitza Stark gene: KMT2A was added
gene: KMT2A was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KMT2A was set to Unknown
Hypertrichosis syndromes v0.0 KDM6A Zornitza Stark gene: KDM6A was added
gene: KDM6A was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: KDM6A was set to Unknown
Hypertrichosis syndromes v0.0 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HDAC8 was set to Unknown
Hypertrichosis syndromes v0.0 BRD4 Zornitza Stark gene: BRD4 was added
gene: BRD4 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BRD4 was set to Unknown
Hypertrichosis syndromes v0.0 ARID2 Zornitza Stark gene: ARID2 was added
gene: ARID2 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID2 was set to Unknown
Hypertrichosis syndromes v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID1B was set to Unknown
Hypertrichosis syndromes v0.0 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARID1A was set to Unknown
Hypertrichosis syndromes v0.0 AFF4 Zornitza Stark gene: AFF4 was added
gene: AFF4 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AFF4 was set to Unknown
Hypertrichosis syndromes v0.0 AFF3 Zornitza Stark gene: AFF3 was added
gene: AFF3 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: AFF3 was set to Unknown
Hypertrichosis syndromes v0.0 Zornitza Stark Added panel Hypertrichosis syndromes_VCGS