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Cytopenia - NOT Fanconi anaemia v2.3 CLPB Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: CLPB.
Cytopenia - NOT Fanconi anaemia v2.3 CLPB Achchuthan Shanmugasundram reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v2.2 CLPB Achchuthan Shanmugasundram Source Expert Review Green was added to CLPB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cytopenia - NOT Fanconi anaemia v1.72 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271 to 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM:619835; Neutropenia, severe congenital, 9, autosomal dominant, OMIM:619813
Cytopenia - NOT Fanconi anaemia v1.71 CLPB Arina Puzriakova Publications for gene: CLPB were set to 25597510; 25597511; 25650066; 26916670; 28687938; 34140661
Cytopenia - NOT Fanconi anaemia v1.69 CLPB Dmitrijs Rots edited their review of gene: CLPB: Added comment: additional evidence in PMID: 34115842; Changed publications to: PMID: 34140661, 34115842
Cytopenia - NOT Fanconi anaemia v1.47 CLPB Arina Puzriakova Tag Q4_21_rating tag was added to gene: CLPB.
Cytopenia - NOT Fanconi anaemia v1.47 CLPB Arina Puzriakova Classified gene: CLPB as Amber List (moderate evidence)
Cytopenia - NOT Fanconi anaemia v1.47 CLPB Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but should be made Green at the next GMS panel update.

Neutropenia is often reported and can be a severe and early feature, sometimes present from birth. Neutropenia was observed in at least 11 biallelic cases and 5 monoallelic cases which is sufficient for a Green rating under the MOI 'Both mono- and biallelic'
Cytopenia - NOT Fanconi anaemia v1.47 CLPB Arina Puzriakova Gene: clpb has been classified as Amber List (Moderate Evidence).
Cytopenia - NOT Fanconi anaemia v1.46 CLPB Arina Puzriakova Publications for gene: CLPB were set to
Cytopenia - NOT Fanconi anaemia v1.45 CLPB Arina Puzriakova Mode of inheritance for gene: CLPB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v1.44 CLPB Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
Cytopenia - NOT Fanconi anaemia v1.43 CLPB Dmitrijs Rots reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34140661; Phenotypes: Neutropenia, intellectual disability; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.136 CLPB Louise Daugherty Source Expert Review Red was added to CLPB.
Cytopenia - NOT Fanconi anaemia v0.135 CLPB Louise Daugherty reviewed gene: CLPB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Cytopenia - NOT Fanconi anaemia v0.134 CLPB Louise Daugherty Source Expert review Red was added to CLPB.
Cytopenia - NOT Fanconi anaemia v0.133 CLPB Louise Daugherty Mode of inheritance for gene CLPB was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 for gene: CLPB
Cytopenia - NOT Fanconi anaemia v0.132 CLPB Louise Daugherty gene: CLPB was added
gene: CLPB was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS
Mode of inheritance for gene: CLPB was set to