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Hydrocephalus v4.4 HYLS1 Arina Puzriakova Tag founder-effect tag was added to gene: HYLS1.
Hydrocephalus v4.4 CLIC2 Arina Puzriakova Phenotypes for gene: CLIC2 were changed from ?Mental retardation, X-linked, syndromic 32, OMIM:300886 to Intellectual developmental disorder, X-linked syndromic 32, OMIM:300886
Hydrocephalus v4.3 MYMK Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: MYMK.
Tag Q4_21_rating was removed from gene: MYMK.
Tag Q4_21_phenotype was removed from gene: MYMK.
Hydrocephalus v4.3 HYLS1 Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: HYLS1.
Tag Q4_21_rating was removed from gene: HYLS1.
Hydrocephalus v4.3 ERF Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: ERF.
Tag Q2_21_expert_review was removed from gene: ERF.
Hydrocephalus v4.1 Eleanor Williams Panel version 4.0 has been signed off on 2023-03-22
Hydrocephalus v4.0 Eleanor Williams promoted panel to version 4.0
Hydrocephalus v3.6 SMARCC1 Eleanor Williams Added comment: Comment on phenotypes: Adding the OMIM phenotype and removing the gene-checked tag.
Hydrocephalus v3.6 SMARCC1 Eleanor Williams Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities; {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
Hydrocephalus v3.5 SMARCC1 Eleanor Williams Tag gene-checked was removed from gene: SMARCC1.
Hydrocephalus v3.5 AP1S2 Eleanor Williams Deleted their comment
Hydrocephalus v3.5 AP1S2 Eleanor Williams Deleted their comment
Hydrocephalus v3.5 AP1S2 Sarah Leigh Tag Q4_21_MOI was removed from gene: AP1S2.
Hydrocephalus v3.5 AP1S2 Eleanor Williams commented on gene: AP1S2: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Hydrocephalus v3.4 AP1S2 Eleanor Williams commented on gene: AP1S2: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Hydrocephalus v3.3 AP1S2 Eleanor Williams commented on gene: AP1S2
Hydrocephalus v3.2 AP1S2 Sarah Leigh Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hydrocephalus v3.1 Eleanor Williams Panel version 3.0 has been signed off on 2022-11-30
Hydrocephalus v3.0 Eleanor Williams promoted panel to version 3.0
Hydrocephalus v2.133 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Hydrocephalus v2.132 AP1S2 Arina Puzriakova changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease).
Hydrocephalus v2.132 HYLS1 Eleanor Williams commented on gene: HYLS1
Hydrocephalus v2.132 HYLS1 Eleanor Williams Tag Q4_21_rating tag was added to gene: HYLS1.
Hydrocephalus v2.132 MYMK Eleanor Williams commented on gene: MYMK
Hydrocephalus v2.132 MYMK Eleanor Williams Tag Q4_21_rating tag was added to gene: MYMK.
Hydrocephalus v2.132 ERF Eleanor Williams commented on gene: ERF
Hydrocephalus v2.132 ERF Eleanor Williams Tag Q2_21_rating tag was added to gene: ERF.
Hydrocephalus v2.132 TBC1D32 Sarah Leigh Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566
Hydrocephalus v2.131 MTM1 Arina Puzriakova Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hydrocephalus v2.130 MTM1 Arina Puzriakova Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, OMIM:310400 to Myopathy, centronuclear, X-linked, OMIM:310400
Hydrocephalus v2.129 KIAA1109 Sarah Leigh changed review comment from: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; to: Added new-gene-name tag, new approved HGNC gene symbol for KIAA1109 is BLTP1.
Hydrocephalus v2.129 KIAA1109 Sarah Leigh Tag new-gene-name tag was added to gene: KIAA1109.
Hydrocephalus v2.129 KIAA1109 Sarah Leigh edited their review of gene: KIAA1109: Added comment: The new_gene_name tag has been added. The new name for KIAA1109 is BLTP1.; Changed phenotypes to: Alkuraya-Kucinskas syndrome 617822
Hydrocephalus v2.129 TRIM71 Arina Puzriakova Tag gene-checked tag was added to gene: TRIM71.
Hydrocephalus v2.129 SMARCC1 Eleanor Williams Tag gene-checked tag was added to gene: SMARCC1.
Hydrocephalus v2.129 TBC1D32 Eleanor Williams Tag gene-checked tag was added to gene: TBC1D32.
Hydrocephalus v2.129 CLIC2 Sarah Leigh Classified gene: CLIC2 as Red List (low evidence)
Hydrocephalus v2.129 CLIC2 Sarah Leigh Gene: clic2 has been classified as Red List (Low Evidence).
Hydrocephalus v2.128 CLIC2 Sarah Leigh Publications for gene: CLIC2 were set to 22814392
Hydrocephalus v2.127 CLIC2 Sarah Leigh reviewed gene: CLIC2: Rating: RED; Mode of pathogenicity: None; Publications: 28333917, 31349857, 22814392; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.127 MYMK Sarah Leigh reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.127 MYMK Sarah Leigh Deleted their review
Hydrocephalus v2.127 MYMK Sarah Leigh commented on gene: MYMK: As the recommendation is to demote MYMK from Green to Amber on this panel, the to_be_confirmed_NHSE tag has been added, as further NHSE review is required.
Hydrocephalus v2.127 MYMK Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: MYMK.
Hydrocephalus v2.127 HYLS1 Sarah Leigh reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.127 HYLS1 Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: HYLS1.
Hydrocephalus v2.127 ERF Sarah Leigh reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.127 ERF Sarah Leigh Tag to_be_confirmed_NHSE tag was added to gene: ERF.
Hydrocephalus v2.127 B4GAT1 Ivone Leong Tag Q3_21_rating was removed from gene: B4GAT1.
Hydrocephalus v2.127 EEF2 Ivone Leong Tag Q2_21_rating was removed from gene: EEF2.
Hydrocephalus v2.127 KIDINS220 Ivone Leong Tag deletions was removed from gene: KIDINS220.
Hydrocephalus v2.127 KIDINS220 Ivone Leong Tag Q2_21_rating was removed from gene: KIDINS220.
Tag deletions tag was added to gene: KIDINS220.
Hydrocephalus v2.127 MPDZ Ivone Leong Tag Q2_21_rating was removed from gene: MPDZ.
Hydrocephalus v2.127 SMARCC1 Ivone Leong Tag Q2_21_rating was removed from gene: SMARCC1.
Hydrocephalus v2.127 TBC1D32 Ivone Leong Tag Q4_21_rating was removed from gene: TBC1D32.
Hydrocephalus v2.127 TCIRG1 Ivone Leong Tag Q4_21_rating was removed from gene: TCIRG1.
Hydrocephalus v2.127 TNFRSF11A Ivone Leong Tag Q4_21_rating was removed from gene: TNFRSF11A.
Hydrocephalus v2.127 TRIM71 Ivone Leong Tag Q2_21_rating was removed from gene: TRIM71.
Hydrocephalus v2.127 TRIM71 Sarah Leigh commented on gene: TRIM71
Hydrocephalus v2.127 TNFRSF11A Sarah Leigh commented on gene: TNFRSF11A
Hydrocephalus v2.127 TCIRG1 Sarah Leigh commented on gene: TCIRG1
Hydrocephalus v2.127 TBC1D32 Sarah Leigh commented on gene: TBC1D32
Hydrocephalus v2.127 SMARCC1 Sarah Leigh commented on gene: SMARCC1
Hydrocephalus v2.127 MPDZ Sarah Leigh commented on gene: MPDZ
Hydrocephalus v2.127 KIDINS220 Sarah Leigh commented on gene: KIDINS220
Hydrocephalus v2.127 EEF2 Sarah Leigh commented on gene: EEF2
Hydrocephalus v2.127 B4GAT1 Sarah Leigh commented on gene: B4GAT1
Hydrocephalus v2.126 TRIM71 Ivone Leong Source Expert Review Green was added to TRIM71.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TNFRSF11A Ivone Leong Source Expert Review Green was added to TNFRSF11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TCIRG1 Ivone Leong Source Expert Review Green was added to TCIRG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 TBC1D32 Ivone Leong Source Expert Review Green was added to TBC1D32.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 SMARCC1 Ivone Leong Source Expert Review Green was added to SMARCC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 MPDZ Ivone Leong Source Expert Review Green was added to MPDZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 KIDINS220 Ivone Leong Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 EEF2 Ivone Leong Source Expert Review Green was added to EEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.126 B4GAT1 Ivone Leong Source Expert Review Green was added to B4GAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hydrocephalus v2.125 KIDINS220 Arina Puzriakova Added comment: Comment on phenotypes: Added relevant phenotype now listed in OMIM (MIM# 619501)
Hydrocephalus v2.125 KIDINS220 Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from brain ventriculomegaly and limb contractures to Ventriculomegaly and arthrogryposis, OMIM:619501
Hydrocephalus v2.124 FMR1 Arina Puzriakova Tag currently-ngs-unreportable was removed from gene: FMR1.
Hydrocephalus v2.124 FMR1 Arina Puzriakova Phenotypes for gene: FMR1 were changed from Fragile X syndrome 300624 to Fragile X syndrome, OMIM:300624
Hydrocephalus v2.123 FMR1 Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: FMR1.
Tag currently-ngs-unreportable tag was added to gene: FMR1.
Hydrocephalus v2.123 HYLS1 Ivone Leong Tag Q4_21_expert_review tag was added to gene: HYLS1.
Hydrocephalus v2.123 TNFRSF11A Ivone Leong Classified gene: TNFRSF11A as Amber List (moderate evidence)
Hydrocephalus v2.123 TNFRSF11A Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not Gene2Phenotype. Based on the expert review there is enough evidnece for this gene to be Green on this panel.
Hydrocephalus v2.123 TNFRSF11A Ivone Leong Gene: tnfrsf11a has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.122 TNFRSF11A Ivone Leong Tag Q4_21_rating tag was added to gene: TNFRSF11A.
Hydrocephalus v2.122 AP1S2 Arina Puzriakova Publications for gene: AP1S2 were set to 17186471
Hydrocephalus v2.121 AP1S2 Arina Puzriakova Tag Q4_21_MOI tag was added to gene: AP1S2.
Hydrocephalus v2.121 AP1S2 Arina Puzriakova Added comment: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles.

As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.
Hydrocephalus v2.121 AP1S2 Arina Puzriakova Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrocephalus v2.120 TBC1D32 Ivone Leong Tag Q4_21_rating tag was added to gene: TBC1D32.
Hydrocephalus v2.120 TBC1D32 Ivone Leong Entity copied from Rare multisystem ciliopathy disorders v1.147
Hydrocephalus v2.120 TBC1D32 Ivone Leong gene: TBC1D32 was added
gene: TBC1D32 was added to Hydrocephalus. Sources: Expert list,Radboud University Medical Center, Nijmegen,Expert Review Amber
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TBC1D32 were set to 32573025; 31130284; 32060556; 24285566
Phenotypes for gene: TBC1D32 were set to Orofaciodigital syndrome, MONDO:0015375
Penetrance for gene: TBC1D32 were set to Complete
Hydrocephalus v2.119 AP1S2 Arina Puzriakova Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5, OMIM:304340 to Pettigrew syndrome, OMIM:304340
Hydrocephalus v2.118 MYMK Ivone Leong Tag Q4_21_phenotype tag was added to gene: MYMK.
Hydrocephalus v2.118 MYMK Ivone Leong commented on gene: MYMK
Hydrocephalus v2.118 MYMK Ivone Leong Tag Q4_21_expert_review tag was added to gene: MYMK.
Hydrocephalus v2.118 TCIRG1 Ivone Leong Tag Q4_21_rating tag was added to gene: TCIRG1.
Hydrocephalus v2.118 TCIRG1 Ivone Leong Publications for gene: TCIRG1 were set to
Hydrocephalus v2.117 TCIRG1 Ivone Leong Classified gene: TCIRG1 as Amber List (moderate evidence)
Hydrocephalus v2.117 TCIRG1 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hydrocephalus v2.117 TCIRG1 Ivone Leong Gene: tcirg1 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.116 B4GAT1 Ivone Leong changed review comment from: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. Hydrocephalus is part of the phenotype. This gene should be rated Green at the next review.
Hydrocephalus v2.116 B4GAT1 Ivone Leong Entity copied from Malformations of cortical development v2.59
Hydrocephalus v2.116 B4GAT1 Ivone Leong gene: B4GAT1 was added
gene: B4GAT1 was added to Hydrocephalus. Sources: Expert Review Amber,Literature
Q3_21_rating tags were added to gene: B4GAT1.
Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GAT1 were set to 23359570; 23877401; 23217742
Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, OMIM:615287
Penetrance for gene: B4GAT1 were set to Complete
Hydrocephalus v2.115 PLG Arina Puzriakova Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I, OMIM:217090 to Plasminogen deficiency, type I, OMIM:217090; Dysplasminogenemia, OMIM:217090
Hydrocephalus v2.114 P4HB Ivone Leong reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.114 ERF Ivone Leong Tag Q2_21_expert_review tag was added to gene: ERF.
Hydrocephalus v2.114 TNFRSF11A Ivone Leong Phenotypes for gene: TNFRSF11A were changed from Osteopetrosis, autosomal recessive 7, MIM# 612301 to Osteopetrosis, autosomal recessive 7, OMIM:612301
Hydrocephalus v2.113 TCIRG1 Ivone Leong Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, autosomal recessive 1, MIM# 259700 to Osteopetrosis, autosomal recessive 1, OMIM:259700
Hydrocephalus v2.112 TBC1D7 Ivone Leong Classified gene: TBC1D7 as Red List (low evidence)
Hydrocephalus v2.112 TBC1D7 Ivone Leong Added comment: Comment on list classification: Demoted from Amber to Red. This gene is associated with a phenotype in OMIM but not Gene2Phenotype. Currently, there is no evidence to support this gene-disease association.
Hydrocephalus v2.112 TBC1D7 Ivone Leong Gene: tbc1d7 has been classified as Red List (Low Evidence).
Hydrocephalus v2.111 TBC1D7 Ivone Leong Tag watchlist was removed from gene: TBC1D7.
Hydrocephalus v2.111 SEC24D Ivone Leong reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.111 MPDZ Ivone Leong reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.111 MPDZ Ivone Leong Tag watchlist was removed from gene: MPDZ.
Tag Q2_21_rating tag was added to gene: MPDZ.
Hydrocephalus v2.111 MPDZ Ivone Leong Publications for gene: MPDZ were set to 23240096; 28460636
Hydrocephalus v2.110 KIF7 Ivone Leong Added comment: Comment on publications: New publication added PMID:26174511
Hydrocephalus v2.110 KIF7 Ivone Leong Publications for gene: KIF7 were set to 21552264
Hydrocephalus v2.109 TRIM71 Ivone Leong Tag Q2_21_rating tag was added to gene: TRIM71.
Hydrocephalus v2.109 TRIM71 Ivone Leong Classified gene: TRIM71 as Amber List (moderate evidence)
Hydrocephalus v2.109 TRIM71 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Hydrocephalus v2.109 TRIM71 Ivone Leong Gene: trim71 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.108 TRIM71 Ivone Leong Added comment: Comment on publications: PMID: 33077954. 3 additional cases with different variants.
Hydrocephalus v2.108 TRIM71 Ivone Leong Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633
Hydrocephalus v2.107 TRIM71 Ivone Leong Phenotypes for gene: TRIM71 were changed from Hydrocephalus, congenital communicating, 1, MIM# 618667 to Hydrocephalus, congenital communicating, 1, OMIM:618667
Hydrocephalus v2.106 ZPR1 Ivone Leong Entity copied from Growth failure in early childhood v1.70
Hydrocephalus v2.106 ZPR1 Ivone Leong gene: ZPR1 was added
gene: ZPR1 was added to Hydrocephalus. Sources: Expert Review Red,Literature
founder-effect tags were added to gene: ZPR1.
Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZPR1 were set to 29851065
Phenotypes for gene: ZPR1 were set to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321
Hydrocephalus v2.105 SMARCC1 Arina Puzriakova commented on gene: SMARCC1: Penetrance for gene SMARCC1 was set from None to Incomplete
Hydrocephalus v2.105 SMARCC1 Arina Puzriakova Penetrance for gene SMARCC1 was set from to None
Hydrocephalus v2.104 SMARCC1 Arina Puzriakova Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities
Hydrocephalus v2.103 SMARCC1 Arina Puzriakova Tag Q2_21_rating tag was added to gene: SMARCC1.
Hydrocephalus v2.103 SMARCC1 Arina Puzriakova Publications for gene: SMARCC1 were set to 33077954; 24170322
Hydrocephalus v2.102 SMARCC1 Arina Puzriakova Classified gene: SMARCC1 as Amber List (moderate evidence)
Hydrocephalus v2.102 SMARCC1 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update.

At least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities.
Hydrocephalus v2.102 SMARCC1 Arina Puzriakova Gene: smarcc1 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.101 ISLR2 Arina Puzriakova Publications for gene: ISLR2 were set to 30483960
Hydrocephalus v2.100 ISLR2 Arina Puzriakova Classified gene: ISLR2 as Red List (low evidence)
Hydrocephalus v2.100 ISLR2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family reported in PMID: 30483960 with congenital hydrocephalus, arthrogryposis and abdominal distension and a homozygous a frameshift deletion that segregated with disease. Knockout mouse model recapitulates some features of the human phenotype, i.e. hydrocephalus (PMID: 29739947).

Rating Red, awaiting further cases.
Hydrocephalus v2.100 ISLR2 Arina Puzriakova Gene: islr2 has been classified as Red List (Low Evidence).
Hydrocephalus v2.99 WNT3 Ivone Leong Phenotypes for gene: WNT3 were changed from Tetra-amelia syndrome to ?Tetra-amelia syndrome 1, OMIM:273395
Hydrocephalus v2.98 TBC1D7 Ivone Leong Phenotypes for gene: TBC1D7 were changed from Macrocephaly/megalencephaly syndrome, autosomal recessive to Macrocephaly/megalencephaly syndrome, autosomal recessive, OMIM:248000
Hydrocephalus v2.97 SEC24D Ivone Leong Phenotypes for gene: SEC24D were changed from Cole-Carpenter syndrome 2 to Cole-Carpenter syndrome 2, OMIM:616294
Hydrocephalus v2.96 SEC24D Ivone Leong Publications for gene: SEC24D were set to 25683121
Hydrocephalus v2.95 PTCH2 Ivone Leong Phenotypes for gene: PTCH2 were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400
Hydrocephalus v2.94 P4HB Ivone Leong Phenotypes for gene: P4HB were changed from Cole-Carpenter syndrome 1 to Cole-Carpenter syndrome 1, OMIM:112240
Hydrocephalus v2.93 P4HB Ivone Leong Publications for gene: P4HB were set to 25683117
Hydrocephalus v2.92 MTM1 Ivone Leong Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked to Myotubular myopathy, X-linked, OMIM:310400
Hydrocephalus v2.91 MPDZ Ivone Leong Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2, OMIM:615219 to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Hydrocephalus v2.90 MPDZ Ivone Leong Phenotypes for gene: MPDZ were changed from Hydrocephalus, nonsyndromic, autosomal recessive 2 615219 to Hydrocephalus, nonsyndromic, autosomal recessive 2, OMIM:615219
Hydrocephalus v2.89 KIF7 Ivone Leong Phenotypes for gene: KIF7 were changed from ?Hydrolethalus syndrome 2 614120 to ?Hydrolethalus syndrome 2, OMIM:614120
Hydrocephalus v2.88 HDAC6 Ivone Leong Phenotypes for gene: HDAC6 were changed from ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia to ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, OMIM:300863
Hydrocephalus v2.87 FLNA Ivone Leong Phenotypes for gene: FLNA were changed from Otopalatodigital syndrome, type II to Otopalatodigital syndrome, type II, OMIM:304120
Hydrocephalus v2.86 EBP Ivone Leong Phenotypes for gene: EBP were changed from MEND syndrome to MEND syndrome, OMIM:300960
Hydrocephalus v2.85 CLIC2 Ivone Leong Phenotypes for gene: CLIC2 were changed from ?Mental retardation, X-linked, syndromic 32 to ?Mental retardation, X-linked, syndromic 32, OMIM:300886
Hydrocephalus v2.84 B3GNT2 Ivone Leong Phenotypes for gene: B3GNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 615287 to muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13, MONDO:0014120
Hydrocephalus v2.83 ARX Ivone Leong Phenotypes for gene: ARX were changed from Hydranencephaly with abnormal genitalia to Hydranencephaly with abnormal genitalia, OMIM:300215
Hydrocephalus v2.82 ZIC3 Ivone Leong Phenotypes for gene: ZIC3 were changed from VACTERL association, X-linked to VACTERL association, X-linked, OMIM:314390
Hydrocephalus v2.81 ZIC2 Ivone Leong Phenotypes for gene: ZIC2 were changed from Holoprosencephaly 5 to Holoprosencephaly 5, OMIM:609637
Hydrocephalus v2.80 ZBTB20 Ivone Leong Phenotypes for gene: ZBTB20 were changed from Primrose syndrome to Primrose syndrome, OMIM:259050
Hydrocephalus v2.79 WASHC5 Ivone Leong Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 to Ritscher-Schinzel syndrome 1, OMIM:220210
Hydrocephalus v2.78 USP9X Ivone Leong Phenotypes for gene: USP9X were changed from Mental retardation, X-linked 99 300919 XLR; Mental retardation, X-linked 99, syndromic, female-restricted 300968 to Mental retardation, X-linked 99, OMIM:300919; Mental retardation, X-linked 99, syndromic, female-restricted OMIM:300968
Hydrocephalus v2.77 TWIST1 Ivone Leong Phenotypes for gene: TWIST1 were changed from Saethre-Chotzen syndrome 101400 to Saethre-Chotzen syndrome with or without eyelid anomalies, OMIM:101400
Hydrocephalus v2.76 TMEM5 Ivone Leong Phenotypes for gene: TMEM5 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 615041 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, OMIM:615041
Hydrocephalus v2.75 TCF12 Ivone Leong Phenotypes for gene: TCF12 were changed from Craniosynostosis 3 615314 to Craniosynostosis 3, OMIM:615314
Hydrocephalus v2.74 SUMF1 Ivone Leong Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency 272200 to Multiple sulfatase deficiency, OMIM:272200
Hydrocephalus v2.73 SUFU Ivone Leong Phenotypes for gene: SUFU were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400
Hydrocephalus v2.72 STRADA Ivone Leong Phenotypes for gene: STRADA were changed from Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087
Hydrocephalus v2.71 SNX10 Ivone Leong Phenotypes for gene: SNX10 were changed from Osteopetrosis, autosomal recessive 8 to Osteopetrosis, autosomal recessive 8, OMIM:615085
Hydrocephalus v2.70 SKI Ivone Leong Phenotypes for gene: SKI were changed from Shprintzen-Goldberg syndrome to Shprintzen-Goldberg syndrome, OMIM:182212
Hydrocephalus v2.69 RPS6KA3 Ivone Leong Phenotypes for gene: RPS6KA3 were changed from Coffin-Lowry syndrome to Coffin-Lowry syndrome, OMIM:303600
Hydrocephalus v2.68 RNF125 Ivone Leong Phenotypes for gene: RNF125 were changed from Tenorio syndrome to Tenorio syndrome, OMIM:616260
Hydrocephalus v2.67 PTEN Ivone Leong Phenotypes for gene: PTEN were changed from Macrocephaly/autism syndrome to Macrocephaly/autism syndrome, OMIM:605309
Hydrocephalus v2.66 PTCH1 Ivone Leong Phenotypes for gene: PTCH1 were changed from Basal cell nevus syndrome to Basal cell nevus syndrome, OMIM:109400
Hydrocephalus v2.65 PPP2R5D Ivone Leong Phenotypes for gene: PPP2R5D were changed from Mental retardation, autosomal dominant 35 to Mental retardation, autosomal dominant 35, OMIM:616355
Hydrocephalus v2.64 POMT1 Ivone Leong Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, OMIM:236670
Hydrocephalus v2.63 POMK Ivone Leong Phenotypes for gene: POMK were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, OMIM:615249
Hydrocephalus v2.62 POMGNT2 Ivone Leong Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, OMIM:614830
Hydrocephalus v2.61 POMGNT1 Ivone Leong Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, OMIM:253280
Hydrocephalus v2.60 PLG Ivone Leong Phenotypes for gene: PLG were changed from Plasminogen deficiency, type I to Plasminogen deficiency, type I, OMIM:217090
Hydrocephalus v2.59 PIK3R2 Ivone Leong Phenotypes for gene: PIK3R2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 603387 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Hydrocephalus v2.58 PIK3CA Ivone Leong Phenotypes for gene: PIK3CA were changed from Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic 602501 to Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, OMIM:602501
Hydrocephalus v2.57 OSTM1 Ivone Leong Phenotypes for gene: OSTM1 were changed from Osteopetrosis, autosomal recessive 5 259720 to Osteopetrosis, autosomal recessive 5, OMIM:259720
Hydrocephalus v2.56 NSD1 Ivone Leong Phenotypes for gene: NSD1 were changed from Sotos syndrome 1 117550 to Sotos syndrome 1, OMIM:117550
Hydrocephalus v2.55 NF1 Ivone Leong Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 to Neurofibromatosis, type 1, OMIM:162200
Hydrocephalus v2.54 MAN2B1 Ivone Leong Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II, OMIM:248500
Hydrocephalus v2.53 LARGE1 Ivone Leong Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, OMIM:613154
Hydrocephalus v2.52 LAMB1 Ivone Leong Phenotypes for gene: LAMB1 were changed from Lissencephaly 5 to Lissencephaly 5, OMIM:615191
Hydrocephalus v2.51 L1CAM Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Corpus callosum, partial agenesis of, OMIM:304100;CRASH syndrome, OMIM:303350;Hydrocephalus due to aqueductal stenosis, OMIM:307000;Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000;Hydrocephalus with Hirschsprung disease, OMIM:307000;MASA syndrome, OMIM:303350;X-linked Hydrocephalus with aqueductal stenosis;Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius;HSAS
Hydrocephalus v2.51 L1CAM Ivone Leong Phenotypes for gene: L1CAM were changed from Corpus callosum, partial agenesis of; CRASH syndrome; Hydrocephalus due to aqueductal stenosis 307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction 307000; Hydrocephalus with Hirschsprung disease 307000; MASA syndrome; X-linked Hydrocephalus with aqueductal stenosis; Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius; HSAS to Corpus callosum, partial agenesis of, OMIM:304100; CRASH syndrome, OMIM:303350; Hydrocephalus due to aqueductal stenosis, OMIM:307000; Hydrocephalus with congential idiopathic intestinal pseudoobstruction, OMIM:307000; Hydrocephalus with Hirschsprung disease, OMIM:307000; MASA syndrome, OMIM:303350
Hydrocephalus v2.50 KIAA1109 Ivone Leong Phenotypes for gene: KIAA1109 were changed from Alkuraya-Kucinskas syndrome 617822 to Alkuraya-Kucinskas syndrome, OMIM:617822
Hydrocephalus v2.49 KIAA0586 Ivone Leong Phenotypes for gene: KIAA0586 were changed from Short-rib thoracic dysplasia 14 with polydactyly 616546 to Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546
Hydrocephalus v2.48 ISPD Ivone Leong Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, OMIM:614643
Hydrocephalus v2.47 IDS Ivone Leong Phenotypes for gene: IDS were changed from Mucopolysaccharidosis II 309900 to Mucopolysaccharidosis II, OMIM:309900
Hydrocephalus v2.46 HYLS1 Ivone Leong Phenotypes for gene: HYLS1 were changed from Hydrolethalus syndrome 236680 to Hydrolethalus syndrome, OMIM:236680
Hydrocephalus v2.45 HYLS1 Ivone Leong Publications for gene: HYLS1 were set to
Hydrocephalus v2.44 GUSB Ivone Leong Phenotypes for gene: GUSB were changed from Mucopolysaccharidosis VII 253220 to Mucopolysaccharidosis VII, OMIM:253220
Hydrocephalus v2.43 GPSM2 Ivone Leong Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome to Chudley-McCullough syndrome, OMIM:604213
Hydrocephalus v2.42 GLI3 Ivone Leong Phenotypes for gene: GLI3 were changed from Greig cephalopolysyndactyly syndrome to Greig cephalopolysyndactyly syndrome, OMIM:175700
Hydrocephalus v2.41 GFAP Ivone Leong Phenotypes for gene: GFAP were changed from Alexander disease 203450 to Alexander disease, OMIM:203450
Hydrocephalus v2.40 FLVCR2 Ivone Leong Phenotypes for gene: FLVCR2 were changed from Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome 225790 to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, OMIM:225790
Hydrocephalus v2.39 FKTN Ivone Leong Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, OMIM:253800
Hydrocephalus v2.38 FKRP Ivone Leong Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, OMIM:613153
Hydrocephalus v2.37 FGFR3 Ivone Leong Phenotypes for gene: FGFR3 were changed from Achondroplasia 100800; Thanatophoric dysplasia 187600; Crouzon syndrome with acanthosis nigricans 612247; Muenke syndrome 602849 to Achondroplasia, OMIM:100800; Thanatophoric dysplasia, OMIM:187600; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Muenke syndrome, OMIM:602849
Hydrocephalus v2.36 FGFR2 Ivone Leong Phenotypes for gene: FGFR2 were changed from Apert syndrome; Crouzon syndrome to Apert syndrome, OMIM:101200; Crouzon syndrome, OMIM:123500
Hydrocephalus v2.35 FGFR1 Ivone Leong Phenotypes for gene: FGFR1 were changed from Pfeiffer syndrome 101600 to Pfeiffer syndrome, OMIM:101600
Hydrocephalus v2.34 FANCB Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
VACTERL Association with Hydrocephalus;Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752;VACTERLX;Fanconi anemia, complementation group B, OMIM:300514
Hydrocephalus v2.34 FANCB Ivone Leong Phenotypes for gene: FANCB were changed from VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B, OMIM:300514 to Vacterl Association, X-Linked, With Or Without Hydrocephalus, MONDO:0010752; Fanconi anemia, complementation group B, OMIM:300514
Hydrocephalus v2.33 FANCB Ivone Leong Phenotypes for gene: FANCB were changed from VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B 300514 to VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; VACTERLX; Fanconi anemia, complementation group B, OMIM:300514
Hydrocephalus v2.32 FAM20C Ivone Leong Phenotypes for gene: FAM20C were changed from Raine syndrome to Raine syndrome, OMIM:259775
Hydrocephalus v2.31 ERF Ivone Leong Phenotypes for gene: ERF were changed from Craniosynostosis 4 600775 to Craniosynostosis 4, OMIM:600775
Hydrocephalus v2.30 EML1 Ivone Leong Phenotypes for gene: EML1 were changed from Band heterotopia, 600348 to Band heterotopia, OMIM:600348
Hydrocephalus v2.29 DHCR24 Ivone Leong Phenotypes for gene: DHCR24 were changed from Desmosterolosis to Desmosterolosis, OMIM:602398
Hydrocephalus v2.28 DENND5A Ivone Leong Phenotypes for gene: DENND5A were changed from Epileptic encephalopathy, early infantile, 49 to Epileptic encephalopathy, early infantile, 49, OMIM:617281
Hydrocephalus v2.27 DAG1 Ivone Leong Phenotypes for gene: DAG1 were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 613818 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, OMIM:613818
Hydrocephalus v2.26 CRB2 Ivone Leong Phenotypes for gene: CRB2 were changed from Ventriculomegaly with cystic kidney disease 219730 to Ventriculomegaly with cystic kidney disease, OMIM:219730
Hydrocephalus v2.25 COL4A1 Ivone Leong Phenotypes for gene: COL4A1 were changed from Porencephaly 1, OMIM:175780 to Brain small vessel disease with or without ocular anomalies, OMIM:175780
Hydrocephalus v2.24 COL4A1 Ivone Leong Phenotypes for gene: COL4A1 were changed from Porencephaly 1 175780 to Porencephaly 1, OMIM:175780
Hydrocephalus v2.23 CEP83 Ivone Leong Phenotypes for gene: CEP83 were changed from Nephronophthisis 18 615862 to Nephronophthisis 18, OMIM:615862
Hydrocephalus v2.22 CENPF Ivone Leong Phenotypes for gene: CENPF were changed from Stromme syndrome 243605 to Stromme syndrome, OMIM:243605
Hydrocephalus v2.21 CCND2 Ivone Leong Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Hydrocephalus v2.20 CCDC88C Ivone Leong Phenotypes for gene: CCDC88C were changed from Hydrocephalus, nonsyndromic, autosomal recessive 236600 to Hydrocephalus, nonsyndromic, autosomal recessive, OMIM:236600
Hydrocephalus v2.19 CC2D2A Ivone Leong Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 612285 to Joubert syndrome 9, OMIM:612285
Hydrocephalus v2.18 BUB1B Ivone Leong Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300
Hydrocephalus v2.17 B3GLCT Ivone Leong Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome 261540 to Peters-plus syndrome, OMIM:261540
Hydrocephalus v2.16 B3GALNT2 Ivone Leong Phenotypes for gene: B3GALNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 615181 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181
Hydrocephalus v2.15 ARSB Ivone Leong Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200; Mucopolysaccharidosis, Type VI to Mucopolysaccharidosis type VI (Maroteaux-Lamy), OMIM:253200
Hydrocephalus v2.14 AP1S2 Ivone Leong Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic, OMIM:5 to Mental retardation, X-linked syndromic 5, OMIM:304340
Hydrocephalus v2.13 AP1S2 Ivone Leong Phenotypes for gene: AP1S2 were changed from Mental retardation, X-linked syndromic 5 to Mental retardation, X-linked syndromic, OMIM:5
Hydrocephalus v2.12 AKT3 Ivone Leong Phenotypes for gene: AKT3 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 615937 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Hydrocephalus v2.11 EEF2 Eleanor Williams Tag Q2_21_rating tag was added to gene: EEF2.
Hydrocephalus v2.11 EEF2 Eleanor Williams Classified gene: EEF2 as Amber List (moderate evidence)
Hydrocephalus v2.11 EEF2 Eleanor Williams Added comment: Comment on list classification: Promoting to amber with recommendation of a green rating at the next GMS review. 3 cases reported with macrocephaly associated with ventriculomegaly. Recommended for addition to the panel by Genomics England clinician.
Hydrocephalus v2.11 EEF2 Eleanor Williams Gene: eef2 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.10 EEF2 Eleanor Williams gene: EEF2 was added
gene: EEF2 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to hydrocephaly
Review for gene: EEF2 was set to GREEN
Added comment: PMID: 33355653 - Nabais Sá et al 2021 - identified de novo EEF2 missense variants in 3 unrelated children (3, 6 and 9 years of age) with a mild phenotype comprising motor delay and relative macrocephaly associated with ventriculomegaly (benign hydrocephaly)
Sources: Literature
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Tag Q2_21_rating tag was added to gene: KIDINS220.
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Classified gene: KIDINS220 as Amber List (moderate evidence)
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Added comment: Comment on list classification: Promoting this gene from red to amber, but with the recommendation of a green rating following GMS review. 3 cases reported. Added to panel at recommendation of Genomics England clinician.
Hydrocephalus v2.9 KIDINS220 Eleanor Williams Gene: kidins220 has been classified as Amber List (Moderate Evidence).
Hydrocephalus v2.8 KIDINS220 Eleanor Williams gene: KIDINS220 was added
gene: KIDINS220 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: KIDINS220 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIDINS220 were set to 32909676; 33205811; 28934391; 22048169
Phenotypes for gene: KIDINS220 were set to brain ventriculomegaly and limb contractures
Review for gene: KIDINS220 was set to GREEN
Added comment: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases.

3 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap:

PMID: 32909676 - El-Dessouky et al 2020 - report a consanguineous family of Egyptian origin with several miscarriages. Prenatal ultrasonography revealed limb contractions and ventriculomegaly aswell as cerebellar anomalies, cardiac anomalies and hydrops fetalis. Using WES a homozygous deleterious frameshift variant (c.208del; p.Asp70Ilefs*18) in KIDINS220 gene was identified. Both parents were heterozygous for this variant.

PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation.

PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs*30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein.

PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
Sources: Literature
Hydrocephalus v2.7 MYMK Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome 254940 to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
Hydrocephalus v2.6 ICK Arina Puzriakova Phenotypes for gene: ICK were changed from Endocrine-cerebroosteodysplasia 612651 to Endocrine-cerebroosteodysplasia, OMIM:612651; Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980
Hydrocephalus v2.5 SMARCC1 Zornitza Stark gene: SMARCC1 was added
gene: SMARCC1 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCC1 were set to 33077954; 24170322
Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus
Review for gene: SMARCC1 was set to GREEN
gene: SMARCC1 was marked as current diagnostic
Added comment: Three de novo variants, two LOF, one missense, reported in this hydrocephalus cohort. Supportive mouse model.
Sources: Literature
Hydrocephalus v2.5 TNFRSF11A Zornitza Stark gene: TNFRSF11A was added
gene: TNFRSF11A was added to Hydrocephalus. Sources: Expert list
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, MIM# 612301
Review for gene: TNFRSF11A was set to GREEN
gene: TNFRSF11A was marked as current diagnostic
Added comment: Hydrocephalus is a reported feature.
Sources: Expert list
Hydrocephalus v2.5 TCIRG1 Zornitza Stark gene: TCIRG1 was added
gene: TCIRG1 was added to Hydrocephalus. Sources: Expert list
Mode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, MIM# 259700
Review for gene: TCIRG1 was set to GREEN
Added comment: Hydrocephalus is a reported part of the phenotype.
Sources: Expert list
Hydrocephalus v2.5 TBC1D7 Zornitza Stark reviewed gene: TBC1D7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hydrocephalus v2.5 SEC24D Zornitza Stark changed review comment from: Three further families reported.; to: Three further families reported, at least one (30462379) specifically had hydrocephalus.
Hydrocephalus v2.5 SEC24D Zornitza Stark reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: 30462379, 27942778, 26467156; Phenotypes: Cole-Carpenter syndrome 2, MIM# 616294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus v2.5 P4HB Zornitza Stark reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30063094, 29263160, 25683117, 29384951; Phenotypes: Cole-Carpenter syndrome 1, MIM#112240; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hydrocephalus v2.5 MYMK Zornitza Stark reviewed gene: MYMK: Rating: RED; Mode of pathogenicity: None; Publications: 28681861; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus v2.5 MPDZ Zornitza Stark reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 28556411, 23240096, 30518636, 29499638; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies 615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus v2.5 KIF7 Zornitza Stark reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 26174511; Phenotypes: Hydrolethalus syndrome 2, MIM# 614120, Ciliopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus v2.5 ISLR2 Zornitza Stark gene: ISLR2 was added
gene: ISLR2 was added to Hydrocephalus. Sources: Expert list
Mode of inheritance for gene: ISLR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISLR2 were set to 30483960
Phenotypes for gene: ISLR2 were set to hydrocephalus; arthrogryposis; abdominal distension
Review for gene: ISLR2 was set to AMBER
Added comment: single consanguineous family with hydrocephalus and arthrogryposis and homozygous truncating variant, mouse model has hydrocephalus
Sources: Expert list
Hydrocephalus v2.5 HYLS1 Zornitza Stark reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 15843405, 18648327, 19400947, 19656802, 32509774; Phenotypes: Hydrolethalus syndrome (MIM#236680); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrocephalus v2.5 ERF Zornitza Stark reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniosynostosis 4, MIM# 600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus v2.5 TRIM71 Zornitza Stark gene: TRIM71 was added
gene: TRIM71 was added to Hydrocephalus. Sources: Literature
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM71 were set to 29983323; 32168371; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1, MIM# 618667
Review for gene: TRIM71 was set to GREEN
Added comment: 3 unrelated individuals with de novo missense and hydrocephalus with ventriculomegaly (p.Arg608His recurrent). One patient then transmitted the variant to an affected child. Functional data.
Sources: Literature
Hydrocephalus v2.4 Catherine Snow Panel version has been signed off
Hydrocephalus v2.1 Louise Daugherty List of related panels changed from Hydrocephalus; R86 to Hydrocephalus; R86
Hydrocephalus v2.0 Louise Daugherty promoted panel to version 2.0
Hydrocephalus v1.39 Louise Daugherty List of related panels changed from Hydrocephalus;R86 to Hydrocephalus; R86
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel; GMS signed-off
Hydrocephalus v1.38 Louise Daugherty List of related panels changed from Hydrocephalus to Hydrocephalus;R86
Hydrocephalus v1.37 ICK Eleanor Williams commented on gene: ICK
Hydrocephalus v1.37 ICK Eleanor Williams Tag new-gene-name tag was added to gene: ICK.
Hydrocephalus v1.37 NMNAT2 Louise Daugherty Publications for gene: NMNAT2 were set to PMID: 31136762
Hydrocephalus v1.36 NMNAT2 Louise Daugherty Classified gene: NMNAT2 as Red List (low evidence)
Hydrocephalus v1.36 NMNAT2 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert (Michael Coleman (University of Cambridge), 11 Sep 2019) on Cerebellar hypoplasia panel v 1.37 and reviewed by curation team: Although appropriate to include on the panel the gene has been rated Red until there is more information to support gene-disease association. The current information in the literature does not support a Green rating as suggested by external reviewer, there are not sufficient cases, only an animal model (PMID:31136762)
Hydrocephalus v1.36 NMNAT2 Louise Daugherty Gene: nmnat2 has been classified as Red List (Low Evidence).
Hydrocephalus v1.35 NMNAT2 Michael Coleman gene: NMNAT2 was added
gene: NMNAT2 was added to Hydrocephalus. Sources: Research
Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT2 were set to PMID: 31136762
Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta
Penetrance for gene: NMNAT2 were set to Complete
Review for gene: NMNAT2 was set to GREEN
Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398).
Sources: Research
Hydrocephalus v1.34 WDR81 Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TTR Louise Daugherty reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TMEM216 Louise Daugherty reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TBX15 Louise Daugherty reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 RNASEH2A Louise Daugherty reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 OFD1 Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NRAS Louise Daugherty reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NOTCH2 Louise Daugherty reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NANS Louise Daugherty reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MMACHC Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GMPPB Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ASXL2 Louise Daugherty reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 WNT3 Louise Daugherty reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TBC1D7 Louise Daugherty reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 SEC24D Louise Daugherty reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PTCH2 Louise Daugherty reviewed gene: PTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 P4HB Louise Daugherty reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MTM1 Louise Daugherty reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MPDZ Louise Daugherty reviewed gene: MPDZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 KIF7 Louise Daugherty reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ICK Louise Daugherty reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 HDAC6 Louise Daugherty reviewed gene: HDAC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FLNA Louise Daugherty reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 EBP Louise Daugherty reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CLIC2 Louise Daugherty reviewed gene: CLIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 B3GNT2 Louise Daugherty reviewed gene: B3GNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ARX Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ZIC3 Louise Daugherty reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ZIC2 Louise Daugherty reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ZBTB20 Louise Daugherty reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 USP9X Louise Daugherty reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TWIST1 Louise Daugherty reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TMEM5 Louise Daugherty edited their review of gene: TMEM5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 TCF12 Louise Daugherty reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 SUMF1 Louise Daugherty reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 SUFU Louise Daugherty reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 STRADA Louise Daugherty edited their review of gene: STRADA: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 SNX10 Louise Daugherty reviewed gene: SNX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 SKI Louise Daugherty reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 RPS6KA3 Louise Daugherty reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 RNF125 Louise Daugherty reviewed gene: RNF125: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PTEN Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PTCH1 Louise Daugherty reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PPP2R5D Louise Daugherty reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMT2 Louise Daugherty reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMT1 Louise Daugherty reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMGNT1 Louise Daugherty reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PLG Louise Daugherty reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PIK3R2 Louise Daugherty reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PIK3CA Louise Daugherty reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 OSTM1 Louise Daugherty reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NSD1 Louise Daugherty reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NF1 Louise Daugherty reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MAN2B1 Louise Daugherty reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 LAMB1 Louise Daugherty reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 KIAA1109 Louise Daugherty reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 KIAA0586 Louise Daugherty reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 IDS Louise Daugherty reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 HYLS1 Louise Daugherty reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GUSB Louise Daugherty reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GPSM2 Louise Daugherty reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GLI3 Louise Daugherty reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FMR1 Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FLVCR2 Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FKTN Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FKRP Louise Daugherty reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FGFR3 Louise Daugherty reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FGFR2 Louise Daugherty reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FGFR1 Louise Daugherty reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FANCB Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FAM20C Louise Daugherty reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ERF Louise Daugherty reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 EML1 Louise Daugherty edited their review of gene: EML1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 DHCR24 Louise Daugherty reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 DENND5A Louise Daugherty reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CRB2 Louise Daugherty reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 COL4A1 Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CEP83 Louise Daugherty reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CENPF Louise Daugherty reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CCND2 Louise Daugherty reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CCDC88C Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CC2D2A Louise Daugherty reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 BUB1B Louise Daugherty reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 B3GALNT2 Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ARSB Louise Daugherty reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 AKT3 Louise Daugherty reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MYMK Louise Daugherty reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 LARGE1 Louise Daugherty edited their review of gene: LARGE1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 B3GLCT Louise Daugherty reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.33 EML1 Louise Daugherty Tag watchlist was removed from gene: EML1.
Hydrocephalus v1.33 EML1 Louise Daugherty commented on gene: EML1
Hydrocephalus v1.33 WDR81 Louise Daugherty Source NHS GMS was added to WDR81.
Hydrocephalus v1.33 TTR Louise Daugherty Source NHS GMS was added to TTR.
Hydrocephalus v1.33 TMEM216 Louise Daugherty Source NHS GMS was added to TMEM216.
Hydrocephalus v1.33 TBX15 Louise Daugherty Source NHS GMS was added to TBX15.
Hydrocephalus v1.33 RNASEH2A Louise Daugherty Source NHS GMS was added to RNASEH2A.
Hydrocephalus v1.33 OFD1 Louise Daugherty Source NHS GMS was added to OFD1.
Hydrocephalus v1.33 NRAS Louise Daugherty Source NHS GMS was added to NRAS.
Hydrocephalus v1.33 NOTCH2 Louise Daugherty Source NHS GMS was added to NOTCH2.
Hydrocephalus v1.33 NANS Louise Daugherty Source NHS GMS was added to NANS.
Hydrocephalus v1.33 MMACHC Louise Daugherty Source NHS GMS was added to MMACHC.
Hydrocephalus v1.33 GMPPB Louise Daugherty Source NHS GMS was added to GMPPB.
Hydrocephalus v1.33 ASXL2 Louise Daugherty Source NHS GMS was added to ASXL2.
Hydrocephalus v1.33 WNT3 Louise Daugherty Source NHS GMS was added to WNT3.
Hydrocephalus v1.33 TBC1D7 Louise Daugherty Source NHS GMS was added to TBC1D7.
Hydrocephalus v1.33 SEC24D Louise Daugherty Source NHS GMS was added to SEC24D.
Hydrocephalus v1.33 PTCH2 Louise Daugherty Source NHS GMS was added to PTCH2.
Hydrocephalus v1.33 P4HB Louise Daugherty Source NHS GMS was added to P4HB.
Hydrocephalus v1.33 MTM1 Louise Daugherty Source NHS GMS was added to MTM1.
Hydrocephalus v1.33 MPDZ Louise Daugherty Source NHS GMS was added to MPDZ.
Hydrocephalus v1.33 KIF7 Louise Daugherty Source NHS GMS was added to KIF7.
Hydrocephalus v1.33 ICK Louise Daugherty Source NHS GMS was added to ICK.
Hydrocephalus v1.33 HDAC6 Louise Daugherty Source NHS GMS was added to HDAC6.
Hydrocephalus v1.33 FLNA Louise Daugherty Source NHS GMS was added to FLNA.
Hydrocephalus v1.33 EBP Louise Daugherty Source NHS GMS was added to EBP.
Hydrocephalus v1.33 CLIC2 Louise Daugherty Source NHS GMS was added to CLIC2.
Hydrocephalus v1.33 B3GNT2 Louise Daugherty Source NHS GMS was added to B3GNT2.
Hydrocephalus v1.33 ARX Louise Daugherty Source NHS GMS was added to ARX.
Hydrocephalus v1.33 ZIC3 Louise Daugherty Source NHS GMS was added to ZIC3.
Hydrocephalus v1.33 ZIC2 Louise Daugherty Source NHS GMS was added to ZIC2.
Hydrocephalus v1.33 ZBTB20 Louise Daugherty Source NHS GMS was added to ZBTB20.
Hydrocephalus v1.33 USP9X Louise Daugherty Source NHS GMS was added to USP9X.
Hydrocephalus v1.33 TWIST1 Louise Daugherty Source NHS GMS was added to TWIST1.
Hydrocephalus v1.33 TMEM5 Louise Daugherty Source NHS GMS was added to TMEM5.
Hydrocephalus v1.33 TCF12 Louise Daugherty Source NHS GMS was added to TCF12.
Hydrocephalus v1.33 SUMF1 Louise Daugherty Source NHS GMS was added to SUMF1.
Hydrocephalus v1.33 SUFU Louise Daugherty Source NHS GMS was added to SUFU.
Hydrocephalus v1.33 STRADA Louise Daugherty Source NHS GMS was added to STRADA.
Hydrocephalus v1.33 SNX10 Louise Daugherty Source NHS GMS was added to SNX10.
Hydrocephalus v1.33 SKI Louise Daugherty Source NHS GMS was added to SKI.
Hydrocephalus v1.33 RPS6KA3 Louise Daugherty Source NHS GMS was added to RPS6KA3.
Hydrocephalus v1.33 RNF125 Louise Daugherty Source NHS GMS was added to RNF125.
Hydrocephalus v1.33 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Hydrocephalus v1.33 PTCH1 Louise Daugherty Source NHS GMS was added to PTCH1.
Hydrocephalus v1.33 PPP2R5D Louise Daugherty Source NHS GMS was added to PPP2R5D.
Hydrocephalus v1.33 POMT2 Louise Daugherty Source NHS GMS was added to POMT2.
Hydrocephalus v1.33 POMT1 Louise Daugherty Source NHS GMS was added to POMT1.
Hydrocephalus v1.33 POMK Louise Daugherty Source NHS GMS was added to POMK.
Hydrocephalus v1.33 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Hydrocephalus v1.33 POMGNT1 Louise Daugherty Source NHS GMS was added to POMGNT1.
Hydrocephalus v1.33 PLG Louise Daugherty Source NHS GMS was added to PLG.
Hydrocephalus v1.33 PIK3R2 Louise Daugherty Source NHS GMS was added to PIK3R2.
Hydrocephalus v1.33 PIK3CA Louise Daugherty Source NHS GMS was added to PIK3CA.
Hydrocephalus v1.33 OSTM1 Louise Daugherty Source NHS GMS was added to OSTM1.
Hydrocephalus v1.33 NSD1 Louise Daugherty Source NHS GMS was added to NSD1.
Hydrocephalus v1.33 NF1 Louise Daugherty Source NHS GMS was added to NF1.
Hydrocephalus v1.33 MAN2B1 Louise Daugherty Source NHS GMS was added to MAN2B1.
Hydrocephalus v1.33 LAMB1 Louise Daugherty Source NHS GMS was added to LAMB1.
Hydrocephalus v1.33 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Hydrocephalus v1.33 KIAA1109 Louise Daugherty Source NHS GMS was added to KIAA1109.
Hydrocephalus v1.33 KIAA0586 Louise Daugherty Source NHS GMS was added to KIAA0586.
Hydrocephalus v1.33 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Hydrocephalus v1.33 IDS Louise Daugherty Source NHS GMS was added to IDS.
Hydrocephalus v1.33 HYLS1 Louise Daugherty Source NHS GMS was added to HYLS1.
Hydrocephalus v1.33 GUSB Louise Daugherty Source NHS GMS was added to GUSB.
Hydrocephalus v1.33 GPSM2 Louise Daugherty Source NHS GMS was added to GPSM2.
Hydrocephalus v1.33 GLI3 Louise Daugherty Source NHS GMS was added to GLI3.
Hydrocephalus v1.33 GFAP Louise Daugherty Source NHS GMS was added to GFAP.
Hydrocephalus v1.33 FMR1 Louise Daugherty Source NHS GMS was added to FMR1.
Hydrocephalus v1.33 FLVCR2 Louise Daugherty Source NHS GMS was added to FLVCR2.
Hydrocephalus v1.33 FKTN Louise Daugherty Source NHS GMS was added to FKTN.
Hydrocephalus v1.33 FKRP Louise Daugherty Source NHS GMS was added to FKRP.
Hydrocephalus v1.33 FGFR3 Louise Daugherty Source NHS GMS was added to FGFR3.
Hydrocephalus v1.33 FGFR2 Louise Daugherty Source NHS GMS was added to FGFR2.
Hydrocephalus v1.33 FGFR1 Louise Daugherty Source NHS GMS was added to FGFR1.
Hydrocephalus v1.33 FANCB Louise Daugherty Source NHS GMS was added to FANCB.
Hydrocephalus v1.33 FAM20C Louise Daugherty Source NHS GMS was added to FAM20C.
Hydrocephalus v1.33 ERF Louise Daugherty Source NHS GMS was added to ERF.
Hydrocephalus v1.33 EML1 Louise Daugherty Source NHS GMS was added to EML1.
Hydrocephalus v1.33 DHCR24 Louise Daugherty Source NHS GMS was added to DHCR24.
Hydrocephalus v1.33 DENND5A Louise Daugherty Source NHS GMS was added to DENND5A.
Hydrocephalus v1.33 DAG1 Louise Daugherty Source NHS GMS was added to DAG1.
Hydrocephalus v1.33 CRB2 Louise Daugherty Source NHS GMS was added to CRB2.
Hydrocephalus v1.33 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Hydrocephalus v1.33 CEP83 Louise Daugherty Source NHS GMS was added to CEP83.
Hydrocephalus v1.33 CENPF Louise Daugherty Source NHS GMS was added to CENPF.
Hydrocephalus v1.33 CCND2 Louise Daugherty Source NHS GMS was added to CCND2.
Hydrocephalus v1.33 CCDC88C Louise Daugherty Source NHS GMS was added to CCDC88C.
Hydrocephalus v1.33 CC2D2A Louise Daugherty Source NHS GMS was added to CC2D2A.
Hydrocephalus v1.33 BUB1B Louise Daugherty Source NHS GMS was added to BUB1B.
Hydrocephalus v1.33 B3GALNT2 Louise Daugherty Source NHS GMS was added to B3GALNT2.
Hydrocephalus v1.33 ARSB Louise Daugherty Source NHS GMS was added to ARSB.
Hydrocephalus v1.33 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Hydrocephalus v1.33 AKT3 Louise Daugherty Source NHS GMS was added to AKT3.
Hydrocephalus v1.33 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Hydrocephalus v1.33 MYMK Louise Daugherty Source NHS GMS was added to MYMK.
Hydrocephalus v1.33 LARGE1 Louise Daugherty Source NHS GMS was added to LARGE1.
Hydrocephalus v1.33 B3GLCT Louise Daugherty Source NHS GMS was added to B3GLCT.
Hydrocephalus v1.32 FMR1 Helen Brittain Classified gene: FMR1 as Red List (low evidence)
Hydrocephalus v1.32 FMR1 Helen Brittain Added comment: Comment on list classification: As per consensus agreement on structural neurological disorders webex on 11th July 2019
Hydrocephalus v1.32 FMR1 Helen Brittain Gene: fmr1 has been classified as Red List (Low Evidence).
Hydrocephalus v1.31 FMR1 Helen Brittain edited their review of gene: FMR1: Added comment: This gene was reviewed on the structural neurological disorders working group webex on 11th July. Although initially included on this panel in view of relative macrocephaly, this is not within the remit of the hydrocephalus panel for the GMS. In view of a lack of phenotypic relevance for SNVs and hydrocephalus, this gene was downgraded to red.; Changed rating: RED
Hydrocephalus v1.31 TTR Ellen McDonagh Publications for gene: TTR were set to
Hydrocephalus v1.30 TTR Ellen McDonagh edited their review of gene: TTR: Changed publications: 30878017, 31131842, 31118583, 31111153, 30120737; Changed phenotypes: Amyloidosis, hereditary, transthyretin-related 105210
Hydrocephalus v1.30 TTR Ellen McDonagh commented on gene: TTR
Hydrocephalus v1.30 TTR Ellen McDonagh Tag treatable tag was added to gene: TTR.
Hydrocephalus v1.28 ISPD Louise Daugherty commented on gene: ISPD
Hydrocephalus v1.28 ISPD Louise Daugherty Tag new-gene-name tag was added to gene: ISPD.
Hydrocephalus v1.28 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Hydrocephalus v1.27 Louise Daugherty List of related panels changed from Hydrocephalus; GMS R86 to Hydrocephalus
Hydrocephalus v1.24 Ellen McDonagh List of related panels changed from to Hydrocephalus; GMS R86
Hydrocephalus v1.23 Ellen McDonagh List of related panels changed from to
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Hydrocephalus USP9X Sarah Leigh classified USP9X as Green List (high evidence)
Hydrocephalus USP9X Sarah Leigh Added gene to panel
Hydrocephalus STRADA Louise Daugherty classified STRADA as Green List (high evidence)
Hydrocephalus STRADA Louise Daugherty Added gene to panel
Hydrocephalus TMEM5 Louise Daugherty commented on TMEM5
Hydrocephalus KIAA1109 Sarah Leigh classified KIAA1109 as Green List (high evidence)
Hydrocephalus KIAA1109 Sarah Leigh Added gene to panel
Hydrocephalus ASXL2 Sarah Leigh Added gene to panel
Hydrocephalus CC2D2A Helen Brittain marked CC2D2A as ready
Hydrocephalus CC2D2A Helen Brittain classified CC2D2A as Green List (high evidence)
Hydrocephalus EML1 Rebecca Foulger classified EML1 as green
Hydrocephalus EML1 Rebecca Foulger commented on EML1
Hydrocephalus WDR81 Rebecca Foulger classified WDR81 as red
Hydrocephalus WDR81 Rebecca Foulger added WDR81 to panel
Hydrocephalus WDR81 Rebecca Foulger reviewed WDR81
Hydrocephalus TMEM8C Sarah Leigh classified TMEM8C as green
Hydrocephalus TMEM8C Sarah Leigh added TMEM8C to panel
Hydrocephalus TMEM8C Sarah Leigh reviewed TMEM8C
Hydrocephalus ZIC3 Helen Brittain commented on ZIC3
Hydrocephalus Ellen McDonagh promoted panel to version 1
Hydrocephalus KIAA0196 Ellen McDonagh commented on KIAA0196
Hydrocephalus WASHC5 Helen Brittain marked WASHC5* as ready
Hydrocephalus ZBTB20 Helen Brittain marked ZBTB20 as ready
Hydrocephalus ZIC2 Helen Brittain marked ZIC2 as ready
Hydrocephalus SUFU Helen Brittain marked SUFU as ready
Hydrocephalus SNX10 Helen Brittain marked SNX10 as ready
Hydrocephalus SKI Helen Brittain marked SKI as ready
Hydrocephalus RPS6KA3 Helen Brittain marked RPS6KA3 as ready
Hydrocephalus RNF125 Helen Brittain marked RNF125 as ready
Hydrocephalus PTEN Helen Brittain marked PTEN as ready
Hydrocephalus PTCH1 Helen Brittain marked PTCH1 as ready
Hydrocephalus PPP2R5D Helen Brittain marked PPP2R5D as ready
Hydrocephalus POMK Helen Brittain marked POMK as ready
Hydrocephalus POMGNT2 Helen Brittain marked POMGNT2 as ready
Hydrocephalus POMGNT1 Helen Brittain marked POMGNT1 as ready
Hydrocephalus PLG Helen Brittain marked PLG as ready
Hydrocephalus NF1 Helen Brittain marked NF1 as ready
Hydrocephalus LAMB1 Helen Brittain marked LAMB1 as ready
Hydrocephalus ISPD Helen Brittain marked ISPD as ready
Hydrocephalus IDS Helen Brittain marked IDS as ready
Hydrocephalus GUSB Helen Brittain marked GUSB as ready
Hydrocephalus GPSM2 Helen Brittain marked GPSM2 as ready
Hydrocephalus GLI3 Helen Brittain marked GLI3 as ready
Hydrocephalus FKTN Helen Brittain marked FKTN as ready
Hydrocephalus FKRP Helen Brittain marked FKRP as ready
Hydrocephalus FGFR3 Helen Brittain marked FGFR3 as ready
Hydrocephalus FGFR2 Helen Brittain marked FGFR2 as ready
Hydrocephalus FAM20C Helen Brittain marked FAM20C as ready
Hydrocephalus DHCR24 Helen Brittain marked DHCR24 as ready
Hydrocephalus DENND5A Helen Brittain marked DENND5A as ready
Hydrocephalus DAG1 Helen Brittain marked DAG1 as ready
Hydrocephalus B3GLCT Helen Brittain marked B3GLCT* as ready
Hydrocephalus AP1S2 Helen Brittain marked AP1S2 as ready
Hydrocephalus FGFR1 Helen Brittain marked FGFR1 as ready
Hydrocephalus FGFR1 Helen Brittain classified FGFR1 as green
Hydrocephalus FGFR1 Helen Brittain added FGFR1 to panel
Hydrocephalus FGFR1 Helen Brittain reviewed FGFR1
Hydrocephalus TCF12 Helen Brittain marked TCF12 as ready
Hydrocephalus TCF12 Helen Brittain classified TCF12 as green
Hydrocephalus TCF12 Helen Brittain added TCF12 to panel
Hydrocephalus TCF12 Helen Brittain reviewed TCF12
Hydrocephalus ERF Helen Brittain marked ERF as ready
Hydrocephalus ERF Helen Brittain classified ERF as green
Hydrocephalus ERF Helen Brittain added ERF to panel
Hydrocephalus ERF Helen Brittain reviewed ERF
Hydrocephalus TWIST1 Helen Brittain marked TWIST1 as ready
Hydrocephalus TWIST1 Helen Brittain classified TWIST1 as green
Hydrocephalus TWIST1 Helen Brittain added TWIST1 to panel
Hydrocephalus TWIST1 Helen Brittain reviewed TWIST1
Hydrocephalus ICK Helen Brittain marked ICK as ready
Hydrocephalus ICK Helen Brittain classified ICK as amber
Hydrocephalus ICK Helen Brittain added ICK to panel
Hydrocephalus ICK Helen Brittain reviewed ICK
Hydrocephalus FLVCR2 Helen Brittain marked FLVCR2 as ready
Hydrocephalus FLVCR2 Helen Brittain classified FLVCR2 as green
Hydrocephalus FLVCR2 Helen Brittain added FLVCR2 to panel
Hydrocephalus FLVCR2 Helen Brittain reviewed FLVCR2
Hydrocephalus OSTM1 Helen Brittain marked OSTM1 as ready
Hydrocephalus OSTM1 Helen Brittain classified OSTM1 as green
Hydrocephalus OSTM1 Helen Brittain added OSTM1 to panel
Hydrocephalus OSTM1 Helen Brittain reviewed OSTM1
Hydrocephalus FANCB Rebecca Foulger commented on FANCB
Hydrocephalus KIF7 Helen Brittain marked KIF7 as ready
Hydrocephalus KIF7 Helen Brittain classified KIF7 as amber
Hydrocephalus KIF7 Helen Brittain added KIF7 to panel
Hydrocephalus KIF7 Helen Brittain reviewed KIF7
Hydrocephalus KIAA0586 Helen Brittain marked KIAA0586 as ready
Hydrocephalus KIAA0586 Helen Brittain classified KIAA0586 as green
Hydrocephalus KIAA0586 Helen Brittain added KIAA0586 to panel
Hydrocephalus KIAA0586 Helen Brittain reviewed KIAA0586
Hydrocephalus HYLS1 Helen Brittain marked HYLS1 as ready
Hydrocephalus HYLS1 Helen Brittain classified HYLS1 as green
Hydrocephalus HYLS1 Helen Brittain added HYLS1 to panel
Hydrocephalus HYLS1 Helen Brittain reviewed HYLS1
Hydrocephalus FGFR3 Helen Brittain edited their review of FGFR3
Hydrocephalus CRB2 Helen Brittain marked CRB2 as ready
Hydrocephalus CRB2 Helen Brittain classified CRB2 as green
Hydrocephalus CRB2 Helen Brittain added CRB2 to panel
Hydrocephalus CRB2 Helen Brittain reviewed CRB2
Hydrocephalus NSD1 Helen Brittain marked NSD1 as ready
Hydrocephalus NSD1 Helen Brittain classified NSD1 as green
Hydrocephalus NSD1 Helen Brittain added NSD1 to panel
Hydrocephalus NSD1 Helen Brittain reviewed NSD1
Hydrocephalus ZIC3 Helen Brittain marked ZIC3 as ready
Hydrocephalus ZIC3 Helen Brittain classified ZIC3 as green
Hydrocephalus COL4A1 Helen Brittain marked COL4A1 as ready
Hydrocephalus PIK3CA Helen Brittain marked PIK3CA as ready
Hydrocephalus AKT3 Helen Brittain marked AKT3 as ready
Hydrocephalus SUMF1 Helen Brittain marked SUMF1 as ready
Hydrocephalus SUMF1 Helen Brittain classified SUMF1 as green
Hydrocephalus MAN2B1 Helen Brittain marked MAN2B1 as ready
Hydrocephalus MAN2B1 Helen Brittain classified MAN2B1 as green
Hydrocephalus GFAP Helen Brittain marked GFAP as ready
Hydrocephalus FMR1 Helen Brittain marked FMR1 as ready
Hydrocephalus FMR1 Helen Brittain classified FMR1 as green
Hydrocephalus FMR1 Helen Brittain added FMR1 to panel
Hydrocephalus FMR1 Helen Brittain reviewed FMR1
Hydrocephalus POMGNT2 Helen Brittain classified POMGNT2 as green
Hydrocephalus DAG1 Helen Brittain classified DAG1 as green
Hydrocephalus GUSB Helen Brittain classified GUSB as green
Hydrocephalus IDS Helen Brittain classified IDS as green
Hydrocephalus IDS Helen Brittain classified IDS as green
Hydrocephalus PIK3CA Helen Brittain classified PIK3CA as green
Hydrocephalus TMEM5 Helen Brittain marked TMEM5 as ready
Hydrocephalus TMEM5 Helen Brittain classified TMEM5 as green
Hydrocephalus GMPPB Helen Brittain added GMPPB to panel
Hydrocephalus GMPPB Helen Brittain reviewed GMPPB
Hydrocephalus POMGNT2 Helen Brittain added POMGNT2 to panel
Hydrocephalus POMGNT2 Helen Brittain reviewed POMGNT2
Hydrocephalus DAG1 Helen Brittain added DAG1 to panel
Hydrocephalus DAG1 Helen Brittain reviewed DAG1
Hydrocephalus TMEM5 Helen Brittain added TMEM5 to panel
Hydrocephalus TMEM5 Helen Brittain reviewed TMEM5
Hydrocephalus ZBTB20 Helen Brittain reviewed ZBTB20
Hydrocephalus ZIC3 Helen Brittain reviewed ZIC3
Hydrocephalus ZIC2 Helen Brittain reviewed ZIC2
Hydrocephalus WASHC5 Helen Brittain reviewed WASHC5*
Hydrocephalus WNT3 Helen Brittain reviewed WNT3
Hydrocephalus TMEM216 Helen Brittain reviewed TMEM216
Hydrocephalus TBX15 Helen Brittain reviewed TBX15
Hydrocephalus TBC1D7 Helen Brittain reviewed TBC1D7
Hydrocephalus SUMF1 Helen Brittain reviewed SUMF1
Hydrocephalus SUFU Helen Brittain reviewed SUFU
Hydrocephalus SNX10 Helen Brittain reviewed SNX10
Hydrocephalus SKI Helen Brittain reviewed SKI
Hydrocephalus SEC24D Helen Brittain reviewed SEC24D
Hydrocephalus RPS6KA3 Helen Brittain reviewed RPS6KA3
Hydrocephalus RNF125 Helen Brittain reviewed RNF125
Hydrocephalus RNASEH2A Helen Brittain reviewed RNASEH2A
Hydrocephalus PTEN Helen Brittain reviewed PTEN
Hydrocephalus PTCH2 Helen Brittain reviewed PTCH2
Hydrocephalus PTCH1 Helen Brittain reviewed PTCH1
Hydrocephalus PPP2R5D Helen Brittain reviewed PPP2R5D
Hydrocephalus POMK Helen Brittain reviewed POMK
Hydrocephalus POMGNT1 Helen Brittain reviewed POMGNT1
Hydrocephalus PLG Helen Brittain reviewed PLG
Hydrocephalus P4HB Helen Brittain reviewed P4HB
Hydrocephalus OFD1 Helen Brittain reviewed OFD1
Hydrocephalus NRAS Helen Brittain reviewed NRAS
Hydrocephalus NOTCH2 Helen Brittain reviewed NOTCH2
Hydrocephalus NF1 Helen Brittain reviewed NF1
Hydrocephalus NANS Helen Brittain reviewed NANS
Hydrocephalus MTM1 Helen Brittain reviewed MTM1
Hydrocephalus MMACHC Helen Brittain reviewed MMACHC
Hydrocephalus LAMB1 Helen Brittain reviewed LAMB1
Hydrocephalus ISPD Helen Brittain reviewed ISPD
Hydrocephalus HDAC6 Helen Brittain reviewed HDAC6
Hydrocephalus GPSM2 Helen Brittain reviewed GPSM2
Hydrocephalus GLI3 Helen Brittain reviewed GLI3
Hydrocephalus FLNA Helen Brittain reviewed FLNA
Hydrocephalus FKTN Helen Brittain reviewed FKTN
Hydrocephalus FKRP Helen Brittain reviewed FKRP
Hydrocephalus FGFR3 Helen Brittain reviewed FGFR3
Hydrocephalus FGFR2 Helen Brittain reviewed FGFR2
Hydrocephalus FAM20C Helen Brittain reviewed FAM20C
Hydrocephalus EML1 Helen Brittain reviewed EML1
Hydrocephalus EBP Helen Brittain reviewed EBP
Hydrocephalus DHCR24 Helen Brittain reviewed DHCR24
Hydrocephalus DENND5A Helen Brittain reviewed DENND5A
Hydrocephalus COL4A1 Helen Brittain reviewed COL4A1
Hydrocephalus CLIC2 Helen Brittain reviewed CLIC2
Hydrocephalus B3GLCT Helen Brittain reviewed B3GLCT*
Hydrocephalus ARX Helen Brittain reviewed ARX
Hydrocephalus AP1S2 Helen Brittain reviewed AP1S2
Hydrocephalus AKT3 Ellen McDonagh commented on AKT3
Hydrocephalus POMT2 Helen Brittain marked POMT2 as ready
Hydrocephalus POMT2 Helen Brittain classified POMT2 as green
Hydrocephalus POMT2 Helen Brittain reviewed POMT2
Hydrocephalus POMT1 Helen Brittain marked POMT1 as ready
Hydrocephalus POMT1 Helen Brittain classified POMT1 as green
Hydrocephalus POMT1 Helen Brittain reviewed POMT1
Hydrocephalus PIK3R2 Helen Brittain marked PIK3R2 as ready
Hydrocephalus PIK3R2 Helen Brittain classified PIK3R2 as green
Hydrocephalus PIK3R2 Helen Brittain reviewed PIK3R2
Hydrocephalus PIK3CA Helen Brittain reviewed PIK3CA
Hydrocephalus MPDZ Helen Brittain marked MPDZ as ready
Hydrocephalus MPDZ Helen Brittain classified MPDZ as amber
Hydrocephalus MPDZ Helen Brittain reviewed MPDZ
Hydrocephalus LARGE Helen Brittain marked LARGE as ready
Hydrocephalus LARGE Helen Brittain classified LARGE as green
Hydrocephalus LARGE Helen Brittain reviewed LARGE
Hydrocephalus IDS Helen Brittain reviewed IDS
Hydrocephalus GUSB Helen Brittain reviewed GUSB
Hydrocephalus CCND2 Helen Brittain marked CCND2 as ready
Hydrocephalus CCND2 Helen Brittain classified CCND2 as green
Hydrocephalus CCND2 Helen Brittain reviewed CCND2
Hydrocephalus CCDC88C Helen Brittain marked CCDC88C as ready
Hydrocephalus CCDC88C Helen Brittain edited their review of CCDC88C
Hydrocephalus CCDC88C Helen Brittain classified CCDC88C as green
Hydrocephalus CCDC88C Helen Brittain commented on CCDC88C
Hydrocephalus CENPF Helen Brittain marked CENPF as ready
Hydrocephalus CENPF Helen Brittain classified CENPF as green
Hydrocephalus B3GNT2 Helen Brittain marked B3GNT2 as ready
Hydrocephalus B3GNT2 Helen Brittain classified B3GNT2 as amber
Hydrocephalus CEP83 Helen Brittain marked CEP83 as ready
Hydrocephalus CEP83 Helen Brittain classified CEP83 as green
Hydrocephalus BUB1B Helen Brittain marked BUB1B as ready
Hydrocephalus BUB1B Helen Brittain classified BUB1B as green
Hydrocephalus B3GALTL Helen Brittain marked B3GALTL as ready
Hydrocephalus B3GALTL Helen Brittain classified B3GALTL as green
Hydrocephalus B3GALNT2 Helen Brittain marked B3GALNT2 as ready
Hydrocephalus B3GALNT2 Helen Brittain classified B3GALNT2 as green
Hydrocephalus AKT3 Helen Brittain classified AKT3 as green
Hydrocephalus GFAP Helen Brittain marked GFAP as ready
Hydrocephalus GFAP Helen Brittain classified GFAP as green
Hydrocephalus GFAP Helen Brittain reviewed GFAP
Hydrocephalus ARSB Helen Brittain classified ARSB as green
Hydrocephalus ARSB Helen Brittain reviewed ARSB
Hydrocephalus AKT3 Helen Brittain reviewed AKT3
Hydrocephalus MAN2B1 Helen Brittain reviewed MAN2B1
Hydrocephalus CEP83 Helen Brittain added CEP83 to panel
Hydrocephalus CEP83 Helen Brittain reviewed CEP83
Hydrocephalus CENPF Helen Brittain added CENPF to panel
Hydrocephalus CENPF Helen Brittain reviewed CENPF
Hydrocephalus BUB1B Helen Brittain added BUB1B to panel
Hydrocephalus BUB1B Helen Brittain reviewed BUB1B
Hydrocephalus B3GNT2 Helen Brittain added B3GNT2 to panel
Hydrocephalus B3GNT2 Helen Brittain reviewed B3GNT2
Hydrocephalus B3GALTL Helen Brittain added B3GALTL to panel
Hydrocephalus B3GALTL Helen Brittain reviewed B3GALTL
Hydrocephalus B3GALNT2 Helen Brittain edited their review of B3GALNT2
Hydrocephalus B3GALNT2 Helen Brittain added B3GALNT2 to panel
Hydrocephalus B3GALNT2 Helen Brittain reviewed B3GALNT2
Hydrocephalus GFAP Helen Brittain reviewed GFAP
Hydrocephalus FANCB Helen Brittain marked FANCB as ready
Hydrocephalus FANCB Helen Brittain classified FANCB as green
Hydrocephalus ARSB Helen Brittain marked ARSB as ready
Hydrocephalus ARSB Helen Brittain classified ARSB as red
Hydrocephalus TTR Helen Brittain marked TTR as ready
Hydrocephalus TTR Helen Brittain classified TTR as red
Hydrocephalus L1CAM Helen Brittain marked L1CAM as ready
Hydrocephalus FANCB Helen Brittain reviewed FANCB
Hydrocephalus ARSB Helen Brittain reviewed ARSB
Hydrocephalus TTR Helen Brittain reviewed TTR
Hydrocephalus L1CAM Helen Brittain reviewed L1CAM
Hydrocephalus LARGE Louise Daugherty commented on LARGE